Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20760030dup , CM000686.2:g.20760030dup | GRCh38 |
| NC_000024.9:g.22921916dup , CM000686.1:g.22921916dup | GRCh37 |
| NC_000024.8:g.21331304dup | NCBI36 |
| NG_032924.1:g.8963dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.244dup MANE Select | ENSP00000486252.1:p.Tyr82LeufsTer12 | |
| ENST00000629237.1:c.244dup | ENSP00000486252.1:p.Tyr82LeufsTer12 | |
| NM_001039567.2:c.244dup | NP_001034656.1:p.Tyr82LeufsTer12 | |
| XM_011531423.1:c.193dup | XP_011529725.1:p.Tyr65LeufsTer12 | |
| NM_001039567.3:c.244dup MANE Select | NP_001034656.1:p.Tyr82LeufsTer12 |