Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612903_10612904delinsCG , CM000670.2:g.10612903_10612904delinsCG | GRCh38 |
| NC_000008.10:g.10470413_10470414delinsCG , CM000670.1:g.10470413_10470414delinsCG | GRCh37 |
| NC_000008.9:g.10507823_10507824delinsCG | NCBI36 |
| NG_028035.1:g.47204_47205delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1194_1195delinsCG MANE Select | ENSP00000371923.3:p.Gly398= | |
| ENST00000382483.3:c.1194_1195delinsCG | ENSP00000371923.3:p.Gly398= | |
| NM_178857.5:c.1194_1195delinsCG | NP_849188.4:p.Gly398= | |
| NM_178857.6:c.1194_1195delinsCG MANE Select | NP_849188.4:p.Gly398= |