Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155910084dup , CM000666.2:g.155910084dup | GRCh38 |
| NC_000004.11:g.156831236dup , CM000666.1:g.156831236dup | GRCh37 |
| NC_000004.10:g.157050686dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005651.4:c.491dup MANE Select | NP_005642.1:p.Ile165AspfsTer12 |
| ENST00000536354.3:c.491dup MANE Select | ENSP00000444788.2:p.Ile165AspfsTer12 |
| NM_005651.3:c.491dup | NP_005642.1:p.Ile165AspfsTer12 |
| ENST00000506072.5:c.170dup | ENSP00000423394.1:p.Ile58AspfsTer? |
| ENST00000512584.5:n.2102-101dup | |
| ENST00000536354.2:c.491dup | ENSP00000444788.2:p.Ile165AspfsTer12 |