Linked Data
dbSNP Id:
rs779978045
ExAC:
6:31323112 GC / G
gnomAD v2:
6-31323112-GC-G
gnomAD v3:
6-31355335-GC-G
gnomAD v4:
6-31355335-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355336del , CM000668.2:g.31355336del | GRCh38 |
| NC_000006.11:g.31323113del , CM000668.1:g.31323113del | GRCh37 |
| NC_000006.10:g.31431092del | NCBI36 |
| NG_023187.1:g.6877del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.2923del | ||
| ENST00000481849.6:n.2349del | ||
| ENST00000497377.6:n.2349del | ||
| ENST00000640094.2:c.876del | ENSP00000491275.2:p.Lys292AsnfsTer5 | |
| ENST00000696558.1:c.945del | ENSP00000512716.1:n.945del | |
| ENST00000696559.1:c.876del | ENSP00000512717.1:p.Lys292AsnfsTer5 | |
| ENST00000696560.1:c.876del | ENSP00000512718.1:p.Lys292AsnfsTer5 | |
| ENST00000696561.1:c.876del | ENSP00000512719.1:p.Lys292AsnfsTer5 | |
| ENST00000696562.1:c.876del | ENSP00000512720.1:p.Lys292AsnfsTer5 | |
| ENST00000412585.7:c.876del MANE Select | ENSP00000399168.2:p.Lys292AsnfsTer5 | |
| ENST00000640094.1:c.69del | ENSP00000491275.1:p.Lys23AsnfsTer5 | |
| ENST00000412585.6:c.876del | ENSP00000399168.2:p.Lys292AsnfsTer5 | |
| ENST00000463574.1:n.467del | ||
| NM_005514.6:c.876del | NP_005505.2:p.Lys292AsnfsTer5 | |
| XM_011514556.1:c.909del | XP_011512858.1:p.Lys303AsnfsTer5 | |
| XM_011514557.1:c.876del | XP_011512859.1:p.Lys292AsnfsTer5 | |
| XR_926175.1:n.1315del | ||
| NM_005514.7:c.876del | NP_005505.2:p.Lys292AsnfsTer5 | |
| NM_005514.8:c.876del MANE Select | NP_005505.2:p.Lys292AsnfsTer5 |