ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114499_43114500delinsTC , CM000672.2:g.43114499_43114500delinsTC | GRCh38 |
| NC_000010.10:g.43609947_43609948delinsTC , CM000672.1:g.43609947_43609948delinsTC | GRCh37 |
| NC_000010.9:g.42929953_42929954delinsTC | NCBI36 |
| NG_007489.1:g.42431_42432delinsTC , LRG_518:g.42431_42432delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1503_1504delinsTC | ENSP00000480088.2:p.Cys502Arg | |
| ENST00000683007.1:n.1473_1474delinsTC | ||
| ENST00000683872.1:n.1464_1465delinsTC | ||
| ENST00000340058.6:c.1899_1900delinsTC | ENSP00000344798.4:p.Cys634Arg | |
| ENST00000355710.8:c.1899_1900delinsTC MANE Select | ENSP00000347942.3:p.Cys634Arg | |
| ENST00000671844.1:c.*493_*494delinsTC | ENSP00000500541.1:n.*493_*494delinsTC | |
| ENST00000672389.1:c.*493_*494delinsTC | ENSP00000500252.1:n.*493_*494delinsTC | |
| ENST00000340058.5:c.1899_1900delinsTC | ENSP00000344798.4:p.Cys634Arg | |
| ENST00000355710.7:c.1899_1900delinsTC | ENSP00000347942.3:p.Cys634Arg | |
| ENST00000498820.5:c.450_451delinsTC | ENSP00000419080.1:p.Cys151Arg | |
| ENST00000615310.4:c.1289+3267_1289+3268delinsTC | ENSP00000480088.1:n.1289+3267_1289+3268delinsTC | |
| NM_020630.4:c.1899_1900delinsTC , LRG_518t2:c.1899_1900delinsTC | NP_065681.1:p.Cys634Arg | |
| NM_020975.4:c.1899_1900delinsTC , LRG_518t1:c.1899_1900delinsTC | NP_066124.1:p.Cys634Arg | |
| XM_011540027.1:c.1899_1900delinsTC | XP_011538329.1:p.Cys634Arg | |
| NM_001355216.1:c.1137_1138delinsTC | NP_001342145.1:p.Cys380Arg | |
| NM_020630.5:c.1899_1900delinsTC | NP_065681.1:p.Cys634Arg | |
| NM_020975.5:c.1899_1900delinsTC | NP_066124.1:p.Cys634Arg | |
| NM_020975.6:c.1899_1900delinsTC MANE Select | NP_066124.1:p.Cys634Arg | |
| NM_020630.6:c.1899_1900delinsTC | NP_065681.1:p.Cys634Arg |