Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640959_73640961delinsCCT , CM000664.2:g.73640959_73640961delinsCCT | GRCh38 |
| NC_000002.11:g.73868086_73868088delinsCCT , CM000664.1:g.73868086_73868088delinsCCT | GRCh37 |
| NC_000002.10:g.73721594_73721596delinsCCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.668_670delinsAGG MANE Select | ENSP00000272425.3:p.Lys223= | |
| ENST00000272425.3:c.668_670delinsAGG | ENSP00000272425.3:p.Lys223= | |
| NM_003960.3:c.668_670delinsAGG | NP_003951.3:p.Lys223= | |
| NM_003960.4:c.668_670delinsAGG MANE Select | NP_003951.3:p.Lys223= |