Linked Data
ClinVar Variation Id:
251154
dbSNP Id:
rs879254476
MyVariant Identifiers:
chr19:g.11215906_11215907delinsTC (hg19)
chr19:g.11105230_11105231delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105230_11105231delinsTC , CM000681.2:g.11105230_11105231delinsTC | GRCh38 |
| NC_000019.9:g.11215906_11215907delinsTC , CM000681.1:g.11215906_11215907delinsTC | GRCh37 |
| NC_000019.8:g.11076906_11076907delinsTC | NCBI36 |
| NG_009060.1:g.20850_20851delinsTC , LRG_274:g.20850_20851delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.582_583delinsTC | ENSP00000252444.6:p.Cys195Arg | |
| ENST00000559340.2:c.324_325delinsTC | ENSP00000453696.2:p.Cys109Arg | |
| ENST00000560467.2:c.324_325delinsTC | ENSP00000453513.2:p.Cys109Arg | |
| ENST00000558518.6:c.324_325delinsTC MANE Select | ENSP00000454071.1:p.Cys109Arg | |
| ENST00000252444.9:c.578_579delinsTC | ||
| ENST00000455727.6:c.314-2162_314-2161delinsTC | ENSP00000397829.2:n.314-2162_314-2161delinsTC | |
| ENST00000535915.5:c.201_202delinsTC | ENSP00000440520.1:p.Cys68Arg | |
| ENST00000545707.5:c.314-1335_314-1334delinsTC | ENSP00000437639.1:n.314-1335_314-1334delinsTC | |
| ENST00000557933.5:c.324_325delinsTC | ENSP00000453557.1:p.Cys109Arg | |
| ENST00000558013.5:c.324_325delinsTC | ENSP00000453346.1:p.Cys109Arg | |
| ENST00000558518.5:c.324_325delinsTC | ENSP00000454071.1:p.Cys109Arg | |
| NM_000527.4:c.324_325delinsTC , LRG_274t1:c.324_325delinsTC | NP_000518.1:p.Cys109Arg | |
| NM_001195798.1:c.324_325delinsTC | NP_001182727.1:p.Cys109Arg | |
| NM_001195799.1:c.201_202delinsTC | NP_001182728.1:p.Cys68Arg | |
| NM_001195800.1:c.314-2162_314-2161delinsTC | NP_001182729.1:n.314-2162_314-2161delinsTC | |
| NM_001195803.1:c.314-1335_314-1334delinsTC | NP_001182732.1:n.314-1335_314-1334delinsTC | |
| XM_011528010.1:c.324_325delinsTC | XP_011526312.1:p.Cys109Arg | |
| XM_011528011.1:c.314-1335_314-1334delinsTC | XP_011526313.1:n.314-1335_314-1334delinsTC | |
| XR_244074.2:n.474_475delinsTC | ||
| XM_011528010.2:c.324_325delinsTC | XP_011526312.1:p.Cys109Arg | |
| XR_001753685.2:n.441_442delinsTC | ||
| XR_001753686.2:n.441_442delinsTC | ||
| NM_000527.5:c.324_325delinsTC MANE Select | NP_000518.1:p.Cys109Arg | |
| NM_001195798.2:c.324_325delinsTC | NP_001182727.1:p.Cys109Arg | |
| NM_001195799.2:c.201_202delinsTC | NP_001182728.1:p.Cys68Arg | |
| NM_001195800.2:c.314-2162_314-2161delinsTC | NP_001182729.1:n.314-2162_314-2161delinsTC | |
| NM_001195803.2:c.314-1335_314-1334delinsTC | NP_001182732.1:n.314-1335_314-1334delinsTC |