Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184915528_184915529delinsGA , CM000664.2:g.184915528_184915529delinsGA | GRCh38 |
| NC_000002.11:g.185780255_185780256delinsGA , CM000664.1:g.185780255_185780256delinsGA | GRCh37 |
| NC_000002.10:g.185488500_185488501delinsGA | NCBI36 |
| NG_046950.1:g.322163_322164delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-18075_256-18074delinsGA MANE Select | ENSP00000303252.6:n.256-18075_256-18074delinsGA | |
| ENST00000302277.6:c.256-18075_256-18074delinsGA | ENSP00000303252.6:n.256-18075_256-18074delinsGA | |
| ENST00000613975.1:c.1-18075_1-18074delinsGA | ENSP00000483032.1:n.1-18075_1-18074delinsGA | |
| NM_194250.1:c.256-18075_256-18074delinsGA | NP_919226.1:n.256-18075_256-18074delinsGA | |
| NM_194250.2:c.256-18075_256-18074delinsGA MANE Select | NP_919226.1:n.256-18075_256-18074delinsGA |