Linked Data
ClinVar Variation Id:
225180
ClinVar RCV Id:
RCV000210842
dbSNP Id:
rs869320649
PubMed:
PMID:27050191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105566_11105567insTG , CM000681.2:g.11105566_11105567insTG | GRCh38 |
| NC_000019.9:g.11216242_11216243insTG , CM000681.1:g.11216242_11216243insTG | GRCh37 |
| NC_000019.8:g.11077242_11077243insTG | NCBI36 |
| NG_009060.1:g.21186_21187insTG , LRG_274:g.21186_21187insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.918_919insTG | ENSP00000252444.6:p.Asp307TrpfsTer? | |
| ENST00000559340.2:c.660_661insTG | ENSP00000453696.2:p.Asp221TrpfsTer? | |
| ENST00000560467.2:c.660_661insTG | ENSP00000453513.2:p.Asp221TrpfsTer? | |
| ENST00000558518.6:c.660_661insTG MANE Select | ENSP00000454071.1:p.Asp221TrpfsTer? | |
| ENST00000252444.9:c.914_915insTG | ||
| ENST00000455727.6:c.314-1826_314-1825insTG | ENSP00000397829.2:n.314-1826_314-1825insTG | |
| ENST00000535915.5:c.537_538insTG | ENSP00000440520.1:p.Asp180TrpfsTer? | |
| ENST00000545707.5:c.314-999_314-998insTG | ENSP00000437639.1:n.314-999_314-998insTG | |
| ENST00000557933.5:c.660_661insTG | ENSP00000453557.1:p.Asp221TrpfsTer? | |
| ENST00000558013.5:c.660_661insTG | ENSP00000453346.1:p.Asp221TrpfsTer? | |
| ENST00000558518.5:c.660_661insTG | ENSP00000454071.1:p.Asp221TrpfsTer? | |
| ENST00000560467.1:c.260_261insTG | ||
| NM_000527.4:c.660_661insTG , LRG_274t1:c.660_661insTG | NP_000518.1:p.Asp221TrpfsTer? | |
| NM_001195798.1:c.660_661insTG | NP_001182727.1:p.Asp221TrpfsTer? | |
| NM_001195799.1:c.537_538insTG | NP_001182728.1:p.Asp180TrpfsTer? | |
| NM_001195800.1:c.314-1826_314-1825insTG | NP_001182729.1:n.314-1826_314-1825insTG | |
| NM_001195803.1:c.314-999_314-998insTG | NP_001182732.1:n.314-999_314-998insTG | |
| XM_011528010.1:c.660_661insTG | XP_011526312.1:p.Asp221TrpfsTer? | |
| XM_011528011.1:c.314-999_314-998insTG | XP_011526313.1:n.314-999_314-998insTG | |
| XR_244074.2:n.810_811insTG | ||
| XM_011528010.2:c.660_661insTG | XP_011526312.1:p.Asp221TrpfsTer? | |
| XR_001753685.2:n.777_778insTG | ||
| XR_001753686.2:n.777_778insTG | ||
| NM_000527.5:c.660_661insTG MANE Select | NP_000518.1:p.Asp221TrpfsTer? | |
| NM_001195798.2:c.660_661insTG | NP_001182727.1:p.Asp221TrpfsTer? | |
| NM_001195799.2:c.537_538insTG | NP_001182728.1:p.Asp180TrpfsTer? | |
| NM_001195800.2:c.314-1826_314-1825insTG | NP_001182729.1:n.314-1826_314-1825insTG | |
| NM_001195803.2:c.314-999_314-998insTG | NP_001182732.1:n.314-999_314-998insTG |