Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31538872_31538873del , CM000680.2:g.31538872_31538873del | GRCh38 |
| NC_000018.9:g.29118835_29118836del , CM000680.1:g.29118835_29118836del | GRCh37 |
| NC_000018.8:g.27372833_27372834del | NCBI36 |
| NG_007072.3:g.45631_45632del , LRG_397:g.45631_45632del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1773_1774del MANE Select | NP_001934.2:p.Cys591Ter |
| ENST00000261590.13:c.1773_1774del MANE Select | ENSP00000261590.8:p.Cys591Ter |
| NM_001943.3:c.1773_1774del , LRG_397t1:c.1773_1774del | NP_001934.2:p.Cys591Ter |
| NM_001943.4:c.1773_1774del | NP_001934.2:p.Cys591Ter |
| ENST00000261590.12:c.1773_1774del | ENSP00000261590.8:p.Cys591Ter |
| XM_024451095.1:c.1239_1240del | XP_024306863.1:p.Cys413Ter |