Linked Data
dbSNP Id:
rs1661579125
gnomAD v3:
1-201075510-AAAGGATGATG-A
gnomAD v4:
1-201075510-AAAGGATGATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201075514_201075523del , CM000663.2:g.201075514_201075523del | GRCh38 |
| NC_000001.10:g.201044642_201044651del , CM000663.1:g.201044642_201044651del | GRCh37 |
| NC_000001.9:g.199311265_199311274del | NCBI36 |
| NG_009816.1:g.42047_42056del | |
| NG_009816.2:g.42047_42056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1923_1932del MANE Select | ENSP00000355192.3:p.Ile642SerfsTer26 | |
| ENST00000679417.1:c.*1086_*1095del | ENSP00000506706.1:n.*1086_*1095del | |
| ENST00000680059.1:c.1923_1932del | ENSP00000504944.1:p.Ile642SerfsTer26 | |
| ENST00000681078.1:c.1923_1932del | ENSP00000506645.1:p.Ile642SerfsTer26 | |
| ENST00000681190.1:c.1923_1932del | ENSP00000506428.1:p.Ile642SerfsTer26 | |
| ENST00000681874.1:c.1923_1932del | ENSP00000505162.1:p.Ile642SerfsTer26 | |
| ENST00000362061.3:c.1923_1932del | ENSP00000355192.3:p.Ile642SerfsTer26 | |
| ENST00000367338.7:c.1923_1932del | ENSP00000356307.3:p.Ile642SerfsTer26 | |
| NM_000069.2:c.1923_1932del | NP_000060.2:p.Ile642SerfsTer26 | |
| XM_005245478.2:c.1923_1932del | XP_005245535.1:p.Ile642SerfsTer26 | |
| XM_005245478.3:c.1923_1932del | XP_005245535.1:p.Ile642SerfsTer26 | |
| NM_000069.3:c.1923_1932del MANE Select | NP_000060.2:p.Ile642SerfsTer26 |