Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670991_86670992insA , CM000670.2:g.86670991_86670992insA | GRCh38 |
| NC_000008.10:g.87683219_87683220insA , CM000670.1:g.87683219_87683220insA | GRCh37 |
| NC_000008.9:g.87752335_87752336insA | NCBI36 |
| NG_016980.1:g.77684_77685insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.445_446insT MANE Select | ENSP00000316605.5:p.Lys149IlefsTer30 | |
| ENST00000680314.1:n.206_207insT | ||
| ENST00000681746.1:c.445_446insT | ENSP00000505959.1:p.Lys149IlefsTer30 | |
| ENST00000320005.5:c.445_446insT | ENSP00000316605.5:p.Lys149IlefsTer30 | |
| NM_019098.4:c.445_446insT | NP_061971.3:p.Lys149IlefsTer30 | |
| XM_011517138.1:c.31_32insT | XP_011515440.1:p.Lys11IlefsTer30 | |
| XM_011517138.2:c.31_32insT | XP_011515440.1:p.Lys11IlefsTer30 | |
| NM_019098.5:c.445_446insT MANE Select | NP_061971.3:p.Lys149IlefsTer30 |