Linked Data
ClinVar Variation Id:
770187
ClinVar RCV Id:
RCV000949313
dbSNP Id:
rs1583913635
gnomAD v3:
7-81705540-ATTGATGC-A
gnomAD v4:
7-81705540-ATTGATGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81705541_81705547del , CM000669.2:g.81705541_81705547del | GRCh38 |
| NC_000007.13:g.81334857_81334863del , CM000669.1:g.81334857_81334863del | GRCh37 |
| NC_000007.12:g.81172793_81172799del | NCBI36 |
| NG_016274.1:g.69590_69596del | |
| NG_016274.2:g.69590_69596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1865-12_1865-6del MANE Select | ENSP00000222390.5:n.1865-12_1865-6del | |
| ENST00000457544.7:c.1850-12_1850-6del | ENSP00000391238.2:n.1850-12_1850-6del | |
| ENST00000222390.9:c.1865-12_1865-6del | ENSP00000222390.5:n.1865-12_1865-6del | |
| ENST00000457544.6:c.1850-12_1850-6del | ENSP00000391238.2:n.1850-12_1850-6del | |
| NM_000601.4:c.1865-12_1865-6del | NP_000592.3:n.1865-12_1865-6del | |
| NM_001010932.1:c.1850-12_1850-6del | NP_001010932.1:n.1850-12_1850-6del | |
| XM_006715956.2:c.1865-12_1865-6del | XP_006716019.1:n.1865-12_1865-6del | |
| XM_011516115.1:c.1850-12_1850-6del | XP_011514417.1:n.1850-12_1850-6del | |
| NM_000601.5:c.1865-12_1865-6del | NP_000592.3:n.1865-12_1865-6del | |
| NM_001010932.2:c.1850-12_1850-6del | NP_001010932.1:n.1850-12_1850-6del | |
| XM_011516115.2:c.1850-12_1850-6del | XP_011514417.1:n.1850-12_1850-6del | |
| NM_000601.6:c.1865-12_1865-6del MANE Select | NP_000592.3:n.1865-12_1865-6del | |
| NM_001010932.3:c.1850-12_1850-6del | NP_001010932.1:n.1850-12_1850-6del |