Linked Data
ClinVar Variation Id:
1644412
ClinVar RCV Id:
RCV002146115
dbSNP Id:
rs1304104982
gnomAD v3:
7-124842973-AT-A
gnomAD v4:
7-124842973-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124842978del , CM000669.2:g.124842978del | GRCh38 |
| NC_000007.13:g.124483032del , CM000669.1:g.124483032del | GRCh37 |
| NC_000007.12:g.124270268del | NCBI36 |
| NG_029232.1:g.92010del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.1007-11del MANE Select | ENSP00000350249.3:n.1007-11del | |
| ENST00000430927.6:c.1007-11del | ENSP00000397632.2:n.1007-11del | |
| ENST00000446993.6:c.614-11del | ENSP00000388921.2:n.614-11del | |
| ENST00000653241.1:c.1007-11del | ENSP00000499476.1:n.1007-11del | |
| ENST00000653274.1:c.1007-11del | ENSP00000499382.1:n.1007-11del | |
| ENST00000653819.1:c.*738-11del | ENSP00000499533.1:n.*738-11del | |
| ENST00000653892.1:c.*649-11del | ENSP00000499506.1:n.*649-11del | |
| ENST00000654766.1:c.1007-11del | ENSP00000499395.1:n.1007-11del | |
| ENST00000655761.1:c.1007-11del | ENSP00000499635.1:n.1007-11del | |
| ENST00000657333.1:c.*738-11del | ENSP00000499425.1:n.*738-11del | |
| ENST00000657892.1:c.*876-11del | ENSP00000499524.1:n.*876-11del | |
| ENST00000661898.1:c.1007-11del | ENSP00000499528.1:n.1007-11del | |
| ENST00000662531.1:c.*902-11del | ENSP00000499488.1:n.*902-11del | |
| ENST00000664330.1:c.*858-11del | ENSP00000499781.1:n.*858-11del | |
| ENST00000664366.1:c.1007-11del | ENSP00000499290.1:n.1007-11del | |
| ENST00000668382.1:c.1007-11del | ENSP00000499546.1:n.1007-11del | |
| ENST00000357628.7:c.1007-11del | ENSP00000350249.3:n.1007-11del | |
| ENST00000393329.5:c.614-11del | ENSP00000377002.1:n.614-11del | |
| ENST00000466483.1:n.276del | ||
| ENST00000607932.5:c.1007-11del | ENSP00000476506.1:n.1007-11del | |
| ENST00000608057.5:c.*104-11del | ENSP00000476371.1:n.*104-11del | |
| ENST00000609106.5:c.1007-11del | ENSP00000476981.1:n.1007-11del | |
| NM_001042594.1:c.614-11del | NP_001036059.1:n.614-11del | |
| NM_015450.2:c.1007-11del | NP_056265.2:n.1007-11del | |
| NR_003102.1:n.1728-11del | ||
| NR_003103.1:n.1608-11del | ||
| NR_003104.1:n.1608-11del | ||
| XM_006715917.2:c.1007-11del | XP_006715980.1:n.1007-11del | |
| XM_011516006.1:c.614-11del | XP_011514308.1:n.614-11del | |
| XM_011516007.1:c.614-11del | XP_011514309.1:n.614-11del | |
| XM_006715917.4:c.1007-11del | XP_006715980.1:n.1007-11del | |
| XM_017011942.2:c.614-11del | XP_016867431.1:n.614-11del | |
| XR_001744618.1:n.1598-11del | ||
| XR_001744619.2:n.1467-11del | ||
| NM_015450.3:c.1007-11del MANE Select | NP_056265.2:n.1007-11del | |
| NM_001042594.2:c.614-11del | NP_001036059.1:n.614-11del | |
| NR_003102.2:n.1570-11del | ||
| NR_003103.2:n.1450-11del | ||
| NR_003104.2:n.1450-11del |