Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122389_72122394dup , CM000679.2:g.72122389_72122394dup | GRCh38 |
| NC_000017.10:g.70118530_70118535dup , CM000679.1:g.70118530_70118535dup | GRCh37 |
| NC_000017.9:g.67630125_67630130dup | NCBI36 |
| NG_012490.1:g.6370_6375dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-330_432-325dup MANE Select | ENSP00000245479.2:n.432-330_432-325dup | |
| ENST00000245479.2:c.432-330_432-325dup | ENSP00000245479.2:n.432-330_432-325dup | |
| NM_000346.3:c.432-330_432-325dup | NP_000337.1:n.432-330_432-325dup | |
| NM_000346.4:c.432-330_432-325dup MANE Select | NP_000337.1:n.432-330_432-325dup |