Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731963_8731964delinsGC , CM000685.2:g.8731963_8731964delinsGC | GRCh38 |
| NC_000023.10:g.8700004_8700005delinsGC , CM000685.1:g.8700004_8700005delinsGC | GRCh37 |
| NC_000023.9:g.8660004_8660005delinsGC | NCBI36 |
| NG_007088.1:g.5223_5224delinsGC | |
| NG_007088.2:g.5223_5224delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.73_74delinsGC MANE Select | ENSP00000262648.3:p.Ala25= | |
| ENST00000262648.7:c.73_74delinsGC | ENSP00000262648.3:p.Ala25= | |
| ENST00000619786.1:c.72_73delinsGC | ENSP00000478734.1:p.Arg24= | |
| NM_000216.2:c.73_74delinsGC | NP_000207.2:p.Ala25= | |
| XM_005274501.3:c.73_74delinsGC | XP_005274558.1:p.Ala25= | |
| NM_000216.3:c.73_74delinsGC | NP_000207.2:p.Ala25= | |
| XM_005274501.4:c.73_74delinsGC | XP_005274558.1:p.Ala25= | |
| NM_000216.4:c.73_74delinsGC MANE Select | NP_000207.2:p.Ala25= |