Linked Data
ClinVar Variation Id:
1481967
dbSNP Id:
rs1258853212
gnomAD v2:
12-32977102-AG-A
gnomAD v3:
12-32824168-AG-A
gnomAD v4:
12-32824168-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824169del , CM000674.2:g.32824169del | GRCh38 |
| NC_000012.11:g.32977103del , CM000674.1:g.32977103del | GRCh37 |
| NC_000012.10:g.32868370del | NCBI36 |
| NG_009000.1:g.77678del , LRG_398:g.77678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.69-7del | ||
| ENST00000700559.2:c.1557-7del | ENSP00000515065.2:n.1557-7del | |
| ENST00000700563.2:c.1557-7del | ENSP00000515066.2:n.1557-7del | |
| ENST00000546498.2:n.237del | ||
| ENST00000700555.1:c.-4-7del | ENSP00000515062.1:n.-4-7del | |
| ENST00000700556.1:c.28-7del | ||
| ENST00000700559.1:c.772-7del | ||
| ENST00000700560.1:n.772-7del | ||
| ENST00000700561.1:n.898-7del | ||
| ENST00000700563.1:c.1511-7del | ||
| ENST00000700564.1:n.1561-7del | ||
| ENST00000070846.11:c.1689-7del | ENSP00000070846.6:n.1689-7del | |
| ENST00000340811.9:c.1557-7del MANE Select | ENSP00000342800.5:n.1557-7del | |
| ENST00000070846.10:c.1689-7del | ENSP00000070846.6:n.1689-7del | |
| ENST00000340811.8:c.1557-7del | ENSP00000342800.4:n.1557-7del | |
| ENST00000546498.1:n.237del | ||
| ENST00000613243.1:c.1689-7del | ENSP00000478295.1:n.1689-7del | |
| NM_001005242.2:c.1557-7del | NP_001005242.2:n.1557-7del | |
| NM_004572.3:c.1689-7del , LRG_398t1:c.1689-7del | NP_004563.2:n.1689-7del | |
| NM_001005242.3:c.1557-7del MANE Select | NP_001005242.2:n.1557-7del | |
| NM_004572.4:c.1689-7del | NP_004563.2:n.1689-7del |