Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671080del , CM000670.2:g.86671080del | GRCh38 |
| NC_000008.10:g.87683308del , CM000670.1:g.87683308del | GRCh37 |
| NC_000008.9:g.87752424del | NCBI36 |
| NG_016980.1:g.77596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.357del MANE Select | ENSP00000316605.5:p.Ala120GlnfsTer5 | |
| ENST00000680314.1:n.118del | ||
| ENST00000681746.1:c.357del | ENSP00000505959.1:p.Ala120GlnfsTer5 | |
| ENST00000320005.5:c.357del | ENSP00000316605.5:p.Ala120GlnfsTer5 | |
| NM_019098.4:c.357del | NP_061971.3:p.Ala120GlnfsTer5 | |
| XM_011517138.1:c.-58del | XP_011515440.1:n.-58del | |
| XM_011517138.2:c.-58del | XP_011515440.1:n.-58del | |
| NM_019098.5:c.357del MANE Select | NP_061971.3:p.Ala120GlnfsTer5 |