Linked Data
dbSNP Id:
rs763127645
ExAC:
16:1411926 TC / T
gnomAD v2:
16-1411926-TC-T
gnomAD v4:
16-1361925-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361927del , CM000678.2:g.1361927del | GRCh38 |
| NC_000016.9:g.1411928del , CM000678.1:g.1411928del | GRCh37 |
| NC_000016.8:g.1351929del | NCBI36 |
| NG_016985.1:g.15029del | |
| NG_033129.1:g.57779del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.388del | ||
| ENST00000529110.2:c.373del | ENSP00000435349.2:p.Arg125AlafsTer27 | |
| ENST00000529957.6:n.347del | ||
| ENST00000683366.1:c.*21del | ENSP00000507283.1:n.*21del | |
| ENST00000683887.1:c.337del | ENSP00000506886.1:p.Arg113AlafsTer27 | |
| ENST00000684100.1:n.283del | ||
| ENST00000684126.1:n.347del | ||
| ENST00000684688.1:n.914del | ||
| ENST00000204679.9:c.289del MANE Select | ENSP00000204679.4:p.Arg97AlafsTer27 | |
| ENST00000204679.8:c.289del | ENSP00000204679.4:p.Arg97AlafsTer27 | |
| ENST00000526820.5:c.*191del | ENSP00000434413.1:n.*191del | |
| ENST00000527076.1:n.1305del | ||
| ENST00000527168.5:n.325del | ||
| ENST00000529110.1:c.356del | ||
| ENST00000529957.5:n.388del | ||
| NM_032520.4:c.289del | NP_115909.1:p.Arg97AlafsTer27 | |
| XM_017023782.1:c.337del | XP_016879271.1:p.Arg113AlafsTer27 | |
| XM_017023783.1:c.-72del | XP_016879272.1:n.-72del | |
| NM_032520.5:c.289del MANE Select | NP_115909.1:p.Arg97AlafsTer27 |