Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895347dup , CM000685.2:g.141895347dup | GRCh38 |
| NC_000023.10:g.140983133dup , CM000685.1:g.140983133dup | GRCh37 |
| NC_000023.9:g.140810799dup | NCBI36 |
| NG_013272.1:g.62032dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.988dup MANE Select | ENSP00000298296.1:p.Cys330LeufsTer? | |
| ENST00000443323.2:c.-118-1084dup | ENSP00000438254.1:n.-118-1084dup | |
| ENST00000483584.5:n.228dup | ||
| ENST00000544766.5:c.-300dup | ENSP00000440444.1:n.-300dup | |
| NM_138702.1:c.988dup MANE Select | NP_619647.1:p.Cys330LeufsTer? | |
| NM_177456.2:c.-300dup | NP_803251.1:n.-300dup | |
| XM_011531267.1:c.-223dup | XP_011529569.1:n.-223dup | |
| XM_011531267.3:c.-223dup | XP_011529569.1:n.-223dup | |
| XM_017029265.2:c.-300dup | XP_016884754.1:n.-300dup |