Linked Data
dbSNP Id:
rs768091603
ExAC:
12:53701302 G / GA
gnomAD v2:
12-53701302-G-GA
gnomAD v4:
12-53307518-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307520dup , CM000674.2:g.53307520dup | GRCh38 |
| NC_000012.11:g.53701304dup , CM000674.1:g.53701304dup | GRCh37 |
| NC_000012.10:g.51987571dup | NCBI36 |
| NG_016775.1:g.19110dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1611dup MANE Select | ENSP00000209873.4:p.Leu538SerfsTer? | |
| ENST00000546562.6:n.2675dup | ||
| ENST00000547238.6:n.2247dup | ||
| ENST00000547757.2:c.*529dup | ENSP00000448020.2:n.*529dup | |
| ENST00000548931.6:c.1046dup | ENSP00000457518.1:p.Cys350LeufsTer10 | |
| ENST00000549450.6:n.1545dup | ||
| ENST00000672797.1:n.2100dup | ||
| ENST00000209873.8:c.1611dup | ENSP00000209873.4:p.Leu538SerfsTer? | |
| ENST00000394384.7:c.1512dup | ENSP00000377908.3:p.Leu505SerfsTer? | |
| ENST00000548931.5:c.1046dup | ENSP00000457518.1:p.Cys350LeufsTer? | |
| ENST00000550286.5:c.1239dup | ENSP00000446885.1:p.Leu414SerfsTer? | |
| ENST00000552876.5:n.1954dup | ||
| NM_001173466.1:c.1512dup | NP_001166937.1:p.Leu505SerfsTer? | |
| NM_015665.5:c.1611dup | NP_056480.1:p.Leu538SerfsTer? | |
| XM_006719617.2:c.1626dup | XP_006719680.1:p.Leu543SerfsTer? | |
| XM_011538777.1:c.1668dup | XP_011537079.1:p.Leu557SerfsTer? | |
| XM_011538778.1:c.1653dup | XP_011537080.1:p.Leu552SerfsTer? | |
| XM_011538779.1:c.1569dup | XP_011537081.1:p.Leu524SerfsTer? | |
| XM_011538780.1:c.1554dup | XP_011537082.1:p.Leu519SerfsTer? | |
| XM_011538781.1:c.1002dup | XP_011537083.1:p.Leu335SerfsTer? | |
| XM_011538778.2:c.1653dup | XP_011537080.1:p.Leu552SerfsTer? | |
| XM_011538780.2:c.1554dup | XP_011537082.1:p.Leu519SerfsTer? | |
| XR_001748875.2:n.1668dup | ||
| NM_015665.6:c.1611dup MANE Select | NP_056480.1:p.Leu538SerfsTer? | |
| NM_001173466.2:c.1512dup | NP_001166937.1:p.Leu505SerfsTer? |