Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173251_173254delinsGGAC , CM000678.2:g.173251_173254delinsGGAC | GRCh38 |
| NC_000016.9:g.223250_223253delinsGGAC , CM000678.1:g.223250_223253delinsGGAC | GRCh37 |
| NC_000016.8:g.163250_163253delinsGGAC | NCBI36 |
| NG_000006.1:g.34114_34117delinsGGAC | |
| NG_059186.1:g.1601_1604delinsGGAC | |
| NG_059271.1:g.5405_5408delinsGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.222_225delinsGGAC MANE Select | ENSP00000251595.6:p.Val74= | |
| ENST00000251595.10:c.222_225delinsGGAC | ENSP00000251595.6:p.Val74= | |
| ENST00000397806.1:c.126_129delinsGGAC | ENSP00000380908.1:p.Val42= | |
| ENST00000482565.1:n.358_361delinsGGAC | ||
| ENST00000484216.1:n.191_194delinsGGAC | ||
| NM_000517.4:c.222_225delinsGGAC | NP_000508.1:p.Val74= | |
| NM_000517.6:c.222_225delinsGGAC MANE Select | NP_000508.1:p.Val74= |