Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183220880_183220881insAA , CM000663.2:g.183220880_183220881insAA | GRCh38 |
| NC_000001.10:g.183190015_183190016insAA , CM000663.1:g.183190015_183190016insAA | GRCh37 |
| NC_000001.9:g.181456638_181456639insAA | NCBI36 |
| NG_007079.2:g.39617_39618insAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.559_560insAA MANE Select | NP_005553.2:p.Cys187Ter |
| ENST00000264144.5:c.559_560insAA MANE Select | ENSP00000264144.4:p.Cys187Ter |
| NM_005562.2:c.559_560insAA | NP_005553.2:p.Cys187Ter |
| NM_018891.2:c.559_560insAA | NP_061486.2:p.Cys187Ter |
| NM_018891.3:c.559_560insAA | NP_061486.2:p.Cys187Ter |
| ENST00000264144.4:c.559_560insAA | ENSP00000264144.4:p.Cys187Ter |
| ENST00000493293.5:c.559_560insAA | ENSP00000432063.1:p.Cys187Ter |
| XM_017001273.2:c.559_560insAA | XP_016856762.1:p.Cys187Ter |