Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755583dup , CM000679.2:g.43755583dup | GRCh38 |
| NC_000017.10:g.41832951dup , CM000679.1:g.41832951dup | GRCh37 |
| NC_000017.9:g.39188477dup | NCBI36 |
| NG_008078.2:g.8206dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.401dup MANE Select | ENSP00000301691.1:p.Cys134TrpfsTer19 | |
| ENST00000301691.2:c.401dup | ENSP00000301691.1:p.Cys134TrpfsTer19 | |
| NM_025237.2:c.401dup | NP_079513.1:p.Cys134TrpfsTer19 | |
| NM_025237.3:c.401dup MANE Select | NP_079513.1:p.Cys134TrpfsTer19 |