ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302247_6302249delinsTGT , CM000666.2:g.6302247_6302249delinsTGT | GRCh38 |
| NC_000004.11:g.6303974_6303976delinsTGT , CM000666.1:g.6303974_6303976delinsTGT | GRCh37 |
| NC_000004.10:g.6354875_6354877delinsTGT | NCBI36 |
| NG_011700.1:g.37398_37400delinsTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2488_2490delinsTGT | ENSP00000507852.1:p.Arg830Cys | |
| ENST00000683395.1:c.2429_2431delinsTGT | ||
| ENST00000684087.1:c.2452_2454delinsTGT | ENSP00000506978.1:p.Arg818Cys | |
| ENST00000506362.2:c.2203_2205delinsTGT | ENSP00000424103.2:p.Arg735Cys | |
| ENST00000673991.1:c.2488_2490delinsTGT | ENSP00000501033.1:p.Arg830Cys | |
| ENST00000226760.5:c.2452_2454delinsTGT MANE Select | ENSP00000226760.1:p.Arg818Cys | |
| ENST00000503569.5:c.2452_2454delinsTGT | ENSP00000423337.1:p.Arg818Cys | |
| ENST00000507765.1:n.2637_2639delinsTGT | ||
| NM_001145853.1:c.2452_2454delinsTGT | NP_001139325.1:p.Arg818Cys | |
| NM_006005.3:c.2452_2454delinsTGT MANE Select | NP_005996.2:p.Arg818Cys | |
| XM_017008586.1:c.2461_2463delinsTGT | XP_016864075.1:p.Arg821Cys |