dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070927_38070951del , CM000664.2:g.38070927_38070951del | GRCh38 |
| NC_000002.11:g.38298070_38298094del , CM000664.1:g.38298070_38298094del | GRCh37 |
| NC_000002.10:g.38151574_38151598del | NCBI36 |
| NG_008386.2:g.10151_10175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1403_1427del | ENSP00000478839.2:p.Arg468IlefsTer28 | |
| ENST00000610745.5:c.1403_1427del MANE Select | ENSP00000478561.1:p.Arg468IlefsTer28 | |
| ENST00000494864.1:c.290_314del | ENSP00000479876.1:p.Arg97IlefsTer28 | |
| ENST00000610745.4:c.1403_1427del | ENSP00000478561.1:p.Arg468IlefsTer28 | |
| ENST00000614273.1:c.1403_1427del | ENSP00000483678.1:p.Arg468IlefsTer28 | |
| NM_000104.3:c.1403_1427del | NP_000095.2:p.Arg468IlefsTer28 | |
| NM_000104.4:c.1403_1427del MANE Select | NP_000095.2:p.Arg468IlefsTer28 |