Linked Data
ClinVar Variation Id:
251670
ClinVar RCV Id:
RCV000237465
dbSNP Id:
rs879254794
MyVariant Identifiers:
chr19:g.11222242_11222243insTGGG (hg19)
chr19:g.11111566_11111567insTGGG (hg38)
PubMed:
PMID:17094996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111566_11111567insTGGG , CM000681.2:g.11111566_11111567insTGGG | GRCh38 |
| NC_000019.9:g.11222242_11222243insTGGG , CM000681.1:g.11222242_11222243insTGGG | GRCh37 |
| NC_000019.8:g.11083242_11083243insTGGG | NCBI36 |
| NG_009060.1:g.27186_27187insTGGG , LRG_274:g.27186_27187insTGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1371_1372insTGGG | ENSP00000252444.6:p.Glu458TrpfsTer10 | |
| ENST00000559340.2:c.1113_1114insTGGG | ENSP00000453696.2:p.Glu372TrpfsTer10 | |
| ENST00000560467.2:c.993_994insTGGG | ENSP00000453513.2:p.Glu332TrpfsTer10 | |
| ENST00000558518.6:c.1113_1114insTGGG MANE Select | ENSP00000454071.1:p.Glu372TrpfsTer10 | |
| ENST00000252444.9:c.1367_1368insTGGG | ||
| ENST00000455727.6:c.609_610insTGGG | ENSP00000397829.2:p.Glu204TrpfsTer10 | |
| ENST00000535915.5:c.990_991insTGGG | ENSP00000440520.1:p.Glu331TrpfsTer10 | |
| ENST00000545707.5:c.732_733insTGGG | ENSP00000437639.1:p.Glu245TrpfsTer10 | |
| ENST00000557933.5:c.1113_1114insTGGG | ENSP00000453557.1:p.Glu372TrpfsTer10 | |
| ENST00000558013.5:c.1113_1114insTGGG | ENSP00000453346.1:p.Glu372TrpfsTer10 | |
| ENST00000558518.5:c.1113_1114insTGGG | ENSP00000454071.1:p.Glu372TrpfsTer10 | |
| ENST00000560173.1:n.112_113insTGGG | ||
| ENST00000560467.1:c.593_594insTGGG | ||
| NM_000527.4:c.1113_1114insTGGG , LRG_274t1:c.1113_1114insTGGG | NP_000518.1:p.Glu372TrpfsTer10 | |
| NM_001195798.1:c.1113_1114insTGGG | NP_001182727.1:p.Glu372TrpfsTer10 | |
| NM_001195799.1:c.990_991insTGGG | NP_001182728.1:p.Glu331TrpfsTer10 | |
| NM_001195800.1:c.609_610insTGGG | NP_001182729.1:p.Glu204TrpfsTer10 | |
| NM_001195803.1:c.732_733insTGGG | NP_001182732.1:p.Glu245TrpfsTer10 | |
| XM_011528010.1:c.1113_1114insTGGG | XP_011526312.1:p.Glu372TrpfsTer10 | |
| XM_011528011.1:c.732_733insTGGG | XP_011526313.1:p.Glu245TrpfsTer10 | |
| XR_244074.2:n.1263_1264insTGGG | ||
| XM_011528010.2:c.1113_1114insTGGG | XP_011526312.1:p.Glu372TrpfsTer10 | |
| XR_001753685.2:n.1230_1231insTGGG | ||
| XR_001753686.2:n.1230_1231insTGGG | ||
| NM_000527.5:c.1113_1114insTGGG MANE Select | NP_000518.1:p.Glu372TrpfsTer10 | |
| NM_001195798.2:c.1113_1114insTGGG | NP_001182727.1:p.Glu372TrpfsTer10 | |
| NM_001195799.2:c.990_991insTGGG | NP_001182728.1:p.Glu331TrpfsTer10 | |
| NM_001195800.2:c.609_610insTGGG | NP_001182729.1:p.Glu204TrpfsTer10 | |
| NM_001195803.2:c.732_733insTGGG | NP_001182732.1:p.Glu245TrpfsTer10 |