Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56027492_56027493del , CM000681.2:g.56027492_56027493del | GRCh38 |
| NC_000019.9:g.56538858_56538859del , CM000681.1:g.56538858_56538859del | GRCh37 |
| NC_000019.8:g.61230670_61230671del | NCBI36 |
| NG_046924.1:g.45710_45711del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153447.4:c.1259_1260del MANE Select | NP_703148.4:p.Glu420GlyfsTer10 |
| ENST00000390649.8:c.1259_1260del MANE Select | ENSP00000375063.3:p.Glu420GlyfsTer10 |
| ENST00000390649.7:c.1259_1260del | ENSP00000375063.3:p.Glu420GlyfsTer10 |
| ENST00000621651.4:c.1259_1260del | ENSP00000481137.1:p.Glu420GlyfsTer10 |
| XM_011526444.1:c.1106_1107del | XP_011524746.1:p.Glu369GlyfsTer10 |