Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183131186_183131190dup , CM000663.2:g.183131186_183131190dup | GRCh38 |
| NC_000001.10:g.183100321_183100325dup , CM000663.1:g.183100321_183100325dup | GRCh37 |
| NC_000001.9:g.181366944_181366948dup | NCBI36 |
| NG_011463.1:g.112727_112731dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.3487-113_3487-109dup MANE Select | NP_002284.3:n.3487-113_3487-109dup |
| ENST00000258341.5:c.3487-113_3487-109dup MANE Select | ENSP00000258341.3:n.3487-113_3487-109dup |
| NM_002293.3:c.3487-113_3487-109dup | NP_002284.3:n.3487-113_3487-109dup |
| ENST00000258341.4:c.3487-113_3487-109dup | ENSP00000258341.3:n.3487-113_3487-109dup |
| ENST00000478064.1:n.432-113_432-109dup |