Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190484del , CM000663.2:g.204190484del | GRCh38 |
| NC_000001.10:g.204159612del , CM000663.1:g.204159612del | GRCh37 |
| NC_000001.9:g.202426235del | NCBI36 |
| NG_032151.1:g.11008del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.417del MANE Select | ENSP00000356162.4:p.Ter139TrpextTer8 | |
| ENST00000367194.4:c.417del | ENSP00000356162.4:p.Ter139TrpextTer8 | |
| ENST00000625357.1:c.415-2del | ENSP00000485957.1:n.415-2del | |
| NM_002256.3:c.417del | NP_002247.3:p.Ter139TrpextTer8 | |
| XM_011509525.1:c.417del | XP_011507827.1:p.Ter139TrpextTer8 | |
| NM_002256.4:c.417del MANE Select | NP_002247.3:p.Ter139TrpextTer8 |