Genomic Map
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Target Gene Details
Entrez Gene ID: | 94 |
Gene Name: | activin A receptor like type 1 |
Gene Aliases: |
ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I |
Location: |
Chr.12:51906913-51923361 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| ACVRL1 | NM_000020.2 | 10 | 1941 | NP_000011.2 |
| NM_001077401.1 | 9 | 1804 | NP_001070869.1 | |
| XM_005269235.2 | 11 | 1943 | XP_005269292.1 | |
| XM_011539008.1 | 7 | 1487 | XP_011537310.1 | |
| AK298493.1 | ||||
| AK300619.1 | ||||
| AK303331.1 | 6 | 1199 | ||
| BC042637.1 | 9 | 1690 | AAH42637.1 | |
| L17075.1 | AAA16160.1 | |||
| Z22533.1 | 10 | 1940 | CAA80255.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv707 | Chr.12:51913177 - 51944329 on Build GRCh38 | Insertion |
 ACVRL1
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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