Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652098_52652101delinsACCT , CM000674.2:g.52652098_52652101delinsACCT | GRCh38 |
| NC_000012.11:g.53045882_53045885delinsACCT , CM000674.1:g.53045882_53045885delinsACCT | GRCh37 |
| NC_000012.10:g.51332149_51332152delinsACCT | NCBI36 |
| NG_008296.1:g.5075_5078delinsAGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.42_45delinsAGGT MANE Select | ENSP00000310861.3:p.Gly14= | |
| ENST00000309680.3:c.42_45delinsAGGT | ENSP00000310861.3:p.Gly14= | |
| NM_000423.2:c.42_45delinsAGGT | NP_000414.2:p.Gly14= | |
| NM_000423.3:c.42_45delinsAGGT MANE Select | NP_000414.2:p.Gly14= |