Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016229_6016230dup , CM000674.2:g.6016229_6016230dup | GRCh38 |
| NC_000012.11:g.6125395_6125396dup , CM000674.1:g.6125395_6125396dup | GRCh37 |
| NC_000012.10:g.5995656_5995657dup | NCBI36 |
| NG_009072.1:g.113441_113442dup | |
| NG_009072.2:g.113441_113442dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5314_5315dup MANE Select | ENSP00000261405.5:p.Asp1772GlufsTer11 | |
| ENST00000261405.9:c.5314_5315dup | ENSP00000261405.5:p.Asp1772GlufsTer11 | |
| ENST00000538635.5:n.421-22296_421-22295dup | ||
| NM_000552.3:c.5314_5315dup | NP_000543.2:p.Asp1772GlufsTer11 | |
| NM_000552.4:c.5314_5315dup | NP_000543.2:p.Asp1772GlufsTer11 | |
| NM_000552.5:c.5314_5315dup MANE Select | NP_000543.3:p.Asp1772GlufsTer11 |