Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698426_42698427delinsCA , CM000668.2:g.42698426_42698427delinsCA | GRCh38 |
| NC_000006.11:g.42666164_42666165delinsCA , CM000668.1:g.42666164_42666165delinsCA | GRCh37 |
| NC_000006.10:g.42774142_42774143delinsCA | NCBI36 |
| NG_009176.1:g.29194_29195delinsTG | |
| NG_009176.2:g.29194_29195delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.909_910delinsTG MANE Select | ENSP00000230381.5:p.Gln304Glu | |
| ENST00000230381.6:c.909_910delinsTG | ENSP00000230381.5:p.Gln304Glu | |
| NM_000322.4:c.909_910delinsTG | NP_000313.2:p.Gln304Glu | |
| XR_427834.2:n.1717_1718delinsTG | ||
| XR_427834.4:n.1767_1768delinsTG | ||
| XR_926295.3:n.1796_1797delinsTG | ||
| NM_000322.5:c.909_910delinsTG MANE Select | NP_000313.2:p.Gln304Glu |