Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367866_73367867del , CM000677.2:g.73367866_73367867del | GRCh38 |
| NC_000015.9:g.73660207_73660208del , CM000677.1:g.73660207_73660208del | GRCh37 |
| NC_000015.8:g.71447260_71447261del | NCBI36 |
| NG_009063.1:g.6399_6400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.405_406del MANE Select | ENSP00000261917.3:p.Asp136ArgfsTer? | |
| ENST00000261917.3:c.405_406del | ENSP00000261917.3:p.Asp136ArgfsTer? | |
| NM_005477.2:c.405_406del | NP_005468.1:p.Asp136ArgfsTer? | |
| NM_005477.3:c.405_406del MANE Select | NP_005468.1:p.Asp136ArgfsTer? |