Linked Data
ClinVar Variation Id:
2000913
ClinVar RCV Id:
RCV002810738
dbSNP Id:
rs766629930
ExAC:
10:50701263 GGACA / G
gnomAD v2:
10-50701263-GGACA-G
gnomAD v3:
10-49493217-GGACA-G
gnomAD v4:
10-49493217-GGACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493222_49493225del , CM000672.2:g.49493222_49493225del | GRCh38 |
| NC_000010.10:g.50701268_50701271del , CM000672.1:g.50701268_50701271del | GRCh37 |
| NC_000010.9:g.50371274_50371277del | NCBI36 |
| NG_009442.1:g.50881_50884del , LRG_465:g.50881_50884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1717_1720del MANE Select | ENSP00000348089.5:p.Cys573GlnfsTer4 | |
| ENST00000681632.1:n.1795_1798del | ||
| ENST00000681659.1:c.1558_1561del | ENSP00000505631.1:p.Cys520GlnfsTer4 | |
| ENST00000355832.9:c.1717_1720del | ENSP00000348089.5:p.Cys573GlnfsTer4 | |
| ENST00000475116.1:n.275+7317_275+7320del | ||
| ENST00000623073.3:c.118_121del | ENSP00000485650.1:p.Cys40GlnfsTer4 | |
| ENST00000623115.3:c.-70+7317_-70+7320del | ENSP00000485321.1:n.-70+7317_-70+7320del | |
| ENST00000623318.1:c.118_121del | ENSP00000485423.1:p.Cys40GlnfsTer4 | |
| NM_000124.3:c.1717_1720del | NP_000115.1:p.Cys573GlnfsTer4 | |
| NM_001346440.1:c.1717_1720del | NP_001333369.1:p.Cys573GlnfsTer4 | |
| NM_000124.4:c.1717_1720del MANE Select | NP_000115.1:p.Cys573GlnfsTer4 | |
| NM_001346440.2:c.1717_1720del | NP_001333369.1:p.Cys573GlnfsTer4 |