Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445682dup , CM000663.2:g.15445682dup | GRCh38 |
| NC_000001.10:g.15772177dup , CM000663.1:g.15772177dup | GRCh37 |
| NC_000001.9:g.15644764dup | NCBI36 |
| NG_009253.1:g.12240dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.725dup MANE Select | ENSP00000365116.4:p.Cys243LeufsTer? | |
| ENST00000375943.6:c.*179dup | ENSP00000365110.2:n.*179dup | |
| ENST00000375949.4:c.725dup | ENSP00000365116.4:p.Cys243LeufsTer? | |
| ENST00000483406.1:n.489dup | ||
| NM_007272.2:c.725dup | NP_009203.2:p.Cys243LeufsTer? | |
| XM_011540550.1:c.579dup | XP_011538852.1:p.Leu194AlafsTer9 | |
| NM_007272.3:c.725dup MANE Select | NP_009203.2:p.Cys243LeufsTer? |