Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205797034del , CM000663.2:g.205797034del | GRCh38 |
| NC_000001.10:g.205766162del , CM000663.1:g.205766162del | GRCh37 |
| NC_000001.9:g.204032785del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173854.6:c.993-29del MANE Select | NP_776253.3:n.993-29del |
| ENST00000367137.4:c.993-29del MANE Select | ENSP00000356105.3:n.993-29del |
| NM_173854.5:c.993-29del | NP_776253.3:n.993-29del |
| ENST00000367137.3:c.993-29del | ENSP00000356105.3:n.993-29del |
| ENST00000468057.5:n.789-29del | |
| XM_005245069.1:c.993-29del | XP_005245126.1:n.993-29del |
| XM_005245069.2:c.993-29del | XP_005245126.1:n.993-29del |