Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038228dup , CM000666.2:g.52038228dup | GRCh38 |
| NC_000004.11:g.52904394dup , CM000666.1:g.52904394dup | GRCh37 |
| NC_000004.10:g.52599151dup | NCBI36 |
| NG_008891.1:g.5092dup , LRG_204:g.5092dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.32dup MANE Select | NP_000223.1:p.Gln12AlafsTer13 |
| ENST00000381431.10:c.32dup MANE Select | ENSP00000370839.6:p.Gln12AlafsTer13 |
| NM_000232.4:c.32dup , LRG_204t1:c.32dup | NP_000223.1:p.Gln12AlafsTer13 |
| ENST00000381431.9:c.32dup | ENSP00000370839.5:p.Gln12AlafsTer13 |
| ENST00000506357.5:c.18dup | |
| XM_011534403.1:c.32dup | XP_011532705.1:p.Ile12AspfsTer17 |