Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226772_5226773delinsCT , CM000673.2:g.5226772_5226773delinsCT | GRCh38 |
| NC_000011.9:g.5248002_5248003delinsCT , CM000673.1:g.5248002_5248003delinsCT | GRCh37 |
| NC_000011.8:g.5204578_5204579delinsCT | NCBI36 |
| NG_000007.3:g.70843_70844delinsAG | |
| NG_059281.1:g.5299_5300delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.119_120delinsAG | ENSP00000494175.1:p.Gln40= | |
| ENST00000335295.4:c.119_120delinsAG MANE Select | ENSP00000333994.3:p.Gln40= | |
| ENST00000380315.2:c.119_120delinsAG | ENSP00000369671.2:p.Gln40= | |
| ENST00000475226.1:n.51_52delinsAG | ||
| ENST00000485743.1:n.170_171delinsAG | ||
| ENST00000633227.1:c.103_104delinsAG | ENSP00000488004.1:p.Arg35= | |
| NM_000518.4:c.119_120delinsAG | NP_000509.1:p.Gln40= | |
| NM_000518.5:c.119_120delinsAG MANE Select | NP_000509.1:p.Gln40= |