Linked Data
ClinVar Variation Id:
540921
ClinVar RCV Id:
RCV000651082
dbSNP Id:
rs764075662
ExAC:
3:179119110 GA / G
gnomAD v2:
3-179119110-GA-G
gnomAD v3:
3-179401322-GA-G
gnomAD v4:
3-179401322-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179401331del , CM000665.2:g.179401331del | GRCh38 |
| NC_000003.11:g.179119119del , CM000665.1:g.179119119del | GRCh37 |
| NC_000003.10:g.180601813del | NCBI36 |
| NG_033163.1:g.55261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.917-4del MANE Select | ENSP00000232564.3:n.917-4del | |
| ENST00000466899.6:c.700-4del | ENSP00000420066.2:n.700-4del | |
| ENST00000468623.6:c.878-4del | ENSP00000419693.2:n.878-4del | |
| ENST00000674713.1:c.809-4del | ENSP00000502144.1:n.809-4del | |
| ENST00000674862.1:c.917-4del | ENSP00000502628.1:n.917-4del | |
| ENST00000676128.1:c.917-4del | ENSP00000501882.1:n.917-4del | |
| ENST00000232564.7:c.917-4del | ENSP00000232564.3:n.917-4del | |
| ENST00000466899.5:c.467-4del | ||
| ENST00000468623.5:c.917-4del | ENSP00000419693.1:n.917-4del | |
| NM_021629.3:c.917-4del | NP_067642.1:n.917-4del | |
| XM_005247692.1:c.917-4del | XP_005247749.1:n.917-4del | |
| XM_006713721.1:c.917-4del | XP_006713784.1:n.917-4del | |
| XM_005247692.2:c.917-4del | XP_005247749.1:n.917-4del | |
| XM_006713721.2:c.917-4del | XP_006713784.1:n.917-4del | |
| NM_021629.4:c.917-4del MANE Select | NP_067642.1:n.917-4del |