Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68448629dup , CM000663.2:g.68448629dup | GRCh38 |
| NC_000001.10:g.68914312dup , CM000663.1:g.68914312dup | GRCh37 |
| NC_000001.9:g.68686900dup | NCBI36 |
| NG_008472.1:g.6331dup | |
| NG_008472.2:g.6331dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.89dup MANE Select | NP_000320.1:p.Thr31AsnfsTer21 |
| ENST00000262340.6:c.89dup MANE Select | ENSP00000262340.5:p.Thr31AsnfsTer21 |
| NM_000329.2:c.89dup | NP_000320.1:p.Thr31AsnfsTer21 |
| ENST00000262340.5:c.89dup | ENSP00000262340.5:p.Thr31AsnfsTer21 |
| XM_017002027.1:c.-37dup | XP_016857516.1:n.-37dup |