Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283411_47283412delinsTG , CM000679.2:g.47283411_47283412delinsTG | GRCh38 |
| NC_000017.10:g.45360777_45360778delinsTG , CM000679.1:g.45360777_45360778delinsTG | GRCh37 |
| NC_000017.9:g.42715776_42715777delinsTG | NCBI36 |
| NG_008332.2:g.34570_34571delinsTG , LRG_481:g.34570_34571delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.223_224delinsTG | ENSP00000513002.1:p.Cys75= | |
| ENST00000559488.7:c.223_224delinsTG MANE Select | ENSP00000452786.2:p.Cys75= | |
| ENST00000559488.5:c.223_224delinsTG | ENSP00000452786.1:p.Cys75= | |
| ENST00000560629.1:c.188_189delinsTG | ||
| ENST00000571680.1:c.223_224delinsTG | ENSP00000461626.1:p.Cys75= | |
| NM_000212.2:c.223_224delinsTG , LRG_481t1:c.223_224delinsTG | NP_000203.2:p.Cys75= | |
| NM_000212.3:c.223_224delinsTG MANE Select | NP_000203.2:p.Cys75= |