Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226762_5226766delinsT , CM000673.2:g.5226762_5226766delinsT | GRCh38 |
| NC_000011.9:g.5247992_5247996delinsT , CM000673.1:g.5247992_5247996delinsT | GRCh37 |
| NC_000011.8:g.5204568_5204572delinsT | NCBI36 |
| NG_000007.3:g.70850_70854delinsA | |
| NG_059281.1:g.5306_5310delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.126_130delinsA | ENSP00000494175.1:p.Phe42LeufsTer19 | |
| ENST00000335295.4:c.126_130delinsA MANE Select | ENSP00000333994.3:p.Phe42LeufsTer19 | |
| ENST00000380315.2:c.126_130delinsA | ENSP00000369671.2:p.Phe42LeufsTer19 | |
| ENST00000475226.1:n.58_62delinsA | ||
| ENST00000485743.1:n.177_181delinsA | ||
| ENST00000633227.1:c.110_114delinsA | ENSP00000488004.1:p.Ser37Ter | |
| NM_000518.4:c.126_130delinsA | NP_000509.1:p.Phe42LeufsTer19 | |
| NM_000518.5:c.126_130delinsA MANE Select | NP_000509.1:p.Phe42LeufsTer19 |