Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954120_19954122delinsGCC , CM000670.2:g.19954120_19954122delinsGCC | GRCh38 |
| NC_000008.10:g.19811631_19811633delinsGCC , CM000670.1:g.19811631_19811633delinsGCC | GRCh37 |
| NC_000008.9:g.19855911_19855913delinsGCC | NCBI36 |
| NG_008855.1:g.20050_20052delinsGCC | |
| NG_008855.2:g.57404_57406delinsGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.542_544delinsGCC MANE Select | ENSP00000497642.1:p.Gly181= | |
| ENST00000311322.8:c.542_544delinsGCC | ENSP00000309757.6:p.Gly181= | |
| ENST00000520959.5:c.314_316delinsGCC | ENSP00000428496.1:p.Gly105= | |
| NM_000237.2:c.542_544delinsGCC | NP_000228.1:p.Gly181= | |
| NM_000237.3:c.542_544delinsGCC MANE Select | NP_000228.1:p.Gly181= |