Linked Data
dbSNP Id:
rs1565777715
gnomAD v2:
12-53702942-GAA-G
gnomAD v4:
12-53309158-GAA-G
MyVariant Identifiers:
chr12:g.53702943_53702944del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309160_53309161del , CM000674.2:g.53309160_53309161del | GRCh38 |
| NC_000012.11:g.53702944_53702945del , CM000674.1:g.53702944_53702945del | GRCh37 |
| NC_000012.10:g.51989211_51989212del | NCBI36 |
| NG_016775.1:g.17469_17470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.932_933del MANE Select | ENSP00000209873.4:p.Phe311SerfsTer11 | |
| ENST00000546393.7:n.1777_1778del | ||
| ENST00000546562.6:n.1996_1997del | ||
| ENST00000547238.6:n.1568_1569del | ||
| ENST00000547520.6:n.926_927del | ||
| ENST00000547757.2:c.-20_-19del | ENSP00000448020.2:n.-20_-19del | |
| ENST00000548880.2:n.1382_1383del | ||
| ENST00000548931.6:c.452_453del | ENSP00000457518.1:p.Phe151SerfsTer11 | |
| ENST00000549450.6:n.866_867del | ||
| ENST00000552161.6:n.1888_1889del | ||
| ENST00000672797.1:n.1385_1386del | ||
| ENST00000672900.1:n.1730_1731del | ||
| ENST00000209873.8:c.932_933del | ENSP00000209873.4:p.Phe311SerfsTer11 | |
| ENST00000394384.7:c.833_834del | ENSP00000377908.3:p.Phe278SerfsTer11 | |
| ENST00000546393.6:n.829_830del | ||
| ENST00000546572.1:n.384_385del | ||
| ENST00000547520.5:n.636_637del | ||
| ENST00000547761.6:n.824_825del | ||
| ENST00000548931.5:c.452_453del | ENSP00000457518.1:p.Phe151SerfsTer11 | |
| ENST00000550033.5:n.187_188del | ||
| ENST00000550286.5:c.560_561del | ENSP00000446885.1:p.Phe187SerfsTer11 | |
| ENST00000552876.5:n.1275_1276del | ||
| NM_001173466.1:c.833_834del | NP_001166937.1:p.Phe278SerfsTer11 | |
| NM_015665.5:c.932_933del | NP_056480.1:p.Phe311SerfsTer11 | |
| XM_006719617.2:c.947_948del | XP_006719680.1:p.Phe316SerfsTer11 | |
| XM_006719619.2:c.947_948del | XP_006719682.1:p.Phe316SerfsTer11 | |
| XM_011538777.1:c.947_948del | XP_011537079.1:p.Phe316SerfsTer11 | |
| XM_011538778.1:c.932_933del | XP_011537080.1:p.Phe311SerfsTer11 | |
| XM_011538779.1:c.848_849del | XP_011537081.1:p.Phe283SerfsTer11 | |
| XM_011538780.1:c.833_834del | XP_011537082.1:p.Phe278SerfsTer11 | |
| XM_011538781.1:c.281_282del | XP_011537083.1:p.Phe94SerfsTer11 | |
| XM_011538778.2:c.932_933del | XP_011537080.1:p.Phe311SerfsTer11 | |
| XM_011538780.2:c.833_834del | XP_011537082.1:p.Phe278SerfsTer11 | |
| XR_001748875.2:n.953_954del | ||
| NM_015665.6:c.932_933del MANE Select | NP_056480.1:p.Phe311SerfsTer11 | |
| NM_001173466.2:c.833_834del | NP_001166937.1:p.Phe278SerfsTer11 |