Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159302399_159302413del , CM000663.2:g.159302399_159302413del | GRCh38 |
| NC_000001.10:g.159272189_159272203del , CM000663.1:g.159272189_159272203del | GRCh37 |
| NC_000001.9:g.157538813_157538827del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693622.1:c.35_49del MANE Select | ENSP00000509626.1:p.Cys12_Leu16del | |
| ENST00000368114.1:c.35_49del | ENSP00000357096.1:p.Cys12_Leu16del | |
| ENST00000368115.5:c.35_49del | ENSP00000357097.1:p.Cys12_Leu16del | |
| NM_002001.3:c.35_49del | NP_001992.1:p.Cys12_Leu16del | |
| NM_001387280.1:c.35_49del MANE Select | NP_001374209.1:p.Cys12_Leu16del | |
| NM_001387281.1:c.35_49del | NP_001374210.1:p.Cys12_Leu16del | |
| NM_001387282.1:c.35_49del | NP_001374211.1:p.Cys12_Leu16del | |
| NM_002001.4:c.35_49del | NP_001992.1:p.Cys12_Leu16del |