Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191804_15191805delinsAT , CM000681.2:g.15191804_15191805delinsAT | GRCh38 |
| NC_000019.9:g.15302615_15302616delinsAT , CM000681.1:g.15302615_15302616delinsAT | GRCh37 |
| NC_000019.8:g.15163615_15163616delinsAT | NCBI36 |
| NG_009819.1:g.14177_14178delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.742_743delinsAT MANE Select | ENSP00000263388.1:p.Gly248Met | |
| ENST00000263388.6:c.742_743delinsAT | ENSP00000263388.1:p.Gly248Met | |
| ENST00000601011.1:c.739_740delinsAT | ENSP00000473138.1:p.Gly247Met | |
| NM_000435.2:c.742_743delinsAT | NP_000426.2:p.Gly248Met | |
| XM_005259924.3:c.742_743delinsAT | XP_005259981.1:p.Gly248Met | |
| XM_005259924.4:c.742_743delinsAT | XP_005259981.1:p.Gly248Met | |
| NM_000435.3:c.742_743delinsAT MANE Select | NP_000426.2:p.Gly248Met |