Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878761_240878763delinsGGA , CM000664.2:g.240878761_240878763delinsGGA | GRCh38 |
| NC_000002.11:g.241818178_241818180delinsGGA , CM000664.1:g.241818178_241818180delinsGGA | GRCh37 |
| NC_000002.10:g.241466851_241466853delinsGGA | NCBI36 |
| NG_008005.1:g.15017_15019delinsGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1119_1121delinsGGA MANE Select | ENSP00000302620.3:p.Val373= | |
| ENST00000307503.3:c.1119_1121delinsGGA | ENSP00000302620.3:p.Val373= | |
| ENST00000470255.1:n.897_899delinsGGA | ||
| NM_000030.2:c.1119_1121delinsGGA | NP_000021.1:p.Val373= | |
| NM_000030.3:c.1119_1121delinsGGA MANE Select | NP_000021.1:p.Val373= |