Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612770_1612771insAC , CM000668.2:g.1612770_1612771insAC | GRCh38 |
| NC_000006.11:g.1613005_1613006insAC , CM000668.1:g.1613005_1613006insAC | GRCh37 |
| NC_000006.10:g.1558004_1558005insAC | NCBI36 |
| NG_009368.1:g.7325_7326insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*663_*664insAC MANE Select | ENSP00000493906.1:n.*663_*664insAC | |
| ENST00000380874.3:c.*663_*664insAC | ENSP00000370256.2:n.*663_*664insAC | |
| NM_001453.2:c.2325_2326insAC | NP_001444.2:n.2325_2326insAC | |
| NM_001453.3:c.*663_*664insAC MANE Select | NP_001444.2:n.*663_*664insAC |