Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6034723_6034724insCAAA , CM000674.2:g.6034723_6034724insCAAA | GRCh38 |
| NC_000012.11:g.6143889_6143890insCAAA , CM000674.1:g.6143889_6143890insCAAA | GRCh37 |
| NC_000012.10:g.6014150_6014151insCAAA | NCBI36 |
| NG_009072.1:g.94947_94948insTTTG | |
| NG_009072.2:g.94947_94948insTTTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.2649_2650insTTTG MANE Select | NP_000543.3:p.Leu884PhefsTer19 |
| ENST00000261405.10:c.2649_2650insTTTG MANE Select | ENSP00000261405.5:p.Leu884PhefsTer19 |
| NM_000552.3:c.2649_2650insTTTG | NP_000543.2:p.Leu884PhefsTer19 |
| NM_000552.4:c.2649_2650insTTTG | NP_000543.2:p.Leu884PhefsTer19 |
| ENST00000261405.9:c.2649_2650insTTTG | ENSP00000261405.5:p.Leu884PhefsTer19 |
| ENST00000538635.5:n.421-40790_421-40789insTTTG |