Linked Data
ClinVar Variation Id:
440578
ClinVar RCV Id:
RCV000508977
dbSNP Id:
rs1555803337
MyVariant Identifiers:
chr19:g.11216117_11216118insGCTCGGAG (hg19)
chr19:g.11105441_11105442insGCTCGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105441_11105442insGCTCGGAG , CM000681.2:g.11105441_11105442insGCTCGGAG | GRCh38 |
| NC_000019.9:g.11216117_11216118insGCTCGGAG , CM000681.1:g.11216117_11216118insGCTCGGAG | GRCh37 |
| NC_000019.8:g.11077117_11077118insGCTCGGAG | NCBI36 |
| NG_009060.1:g.21061_21062insGCTCGGAG , LRG_274:g.21061_21062insGCTCGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.793_794insGCTCGGAG | ENSP00000252444.6:p.Glu265GlyfsTer30 | |
| ENST00000559340.2:c.535_536insGCTCGGAG | ENSP00000453696.2:p.Glu179GlyfsTer30 | |
| ENST00000560467.2:c.535_536insGCTCGGAG | ENSP00000453513.2:p.Glu179GlyfsTer30 | |
| ENST00000558518.6:c.535_536insGCTCGGAG MANE Select | ENSP00000454071.1:p.Glu179GlyfsTer30 | |
| ENST00000252444.9:c.789_790insGCTCGGAG | ||
| ENST00000455727.6:c.314-1951_314-1950insGCTCGGAG | ENSP00000397829.2:n.314-1951_314-1950insGCTCGGAG | |
| ENST00000535915.5:c.412_413insGCTCGGAG | ENSP00000440520.1:p.Glu138GlyfsTer30 | |
| ENST00000545707.5:c.314-1124_314-1123insGCTCGGAG | ENSP00000437639.1:n.314-1124_314-1123insGCTCGGAG | |
| ENST00000557933.5:c.535_536insGCTCGGAG | ENSP00000453557.1:p.Glu179GlyfsTer30 | |
| ENST00000558013.5:c.535_536insGCTCGGAG | ENSP00000453346.1:p.Glu179GlyfsTer30 | |
| ENST00000558518.5:c.535_536insGCTCGGAG | ENSP00000454071.1:p.Glu179GlyfsTer30 | |
| ENST00000560467.1:c.135_136insGCTCGGAG | ||
| NM_000527.4:c.535_536insGCTCGGAG , LRG_274t1:c.535_536insGCTCGGAG | NP_000518.1:p.Glu179GlyfsTer30 | |
| NM_001195798.1:c.535_536insGCTCGGAG | NP_001182727.1:p.Glu179GlyfsTer30 | |
| NM_001195799.1:c.412_413insGCTCGGAG | NP_001182728.1:p.Glu138GlyfsTer30 | |
| NM_001195800.1:c.314-1951_314-1950insGCTCGGAG | NP_001182729.1:n.314-1951_314-1950insGCTCGGAG | |
| NM_001195803.1:c.314-1124_314-1123insGCTCGGAG | NP_001182732.1:n.314-1124_314-1123insGCTCGGAG | |
| XM_011528010.1:c.535_536insGCTCGGAG | XP_011526312.1:p.Glu179GlyfsTer30 | |
| XM_011528011.1:c.314-1124_314-1123insGCTCGGAG | XP_011526313.1:n.314-1124_314-1123insGCTCGGAG | |
| XR_244074.2:n.685_686insGCTCGGAG | ||
| XM_011528010.2:c.535_536insGCTCGGAG | XP_011526312.1:p.Glu179GlyfsTer30 | |
| XR_001753685.2:n.652_653insGCTCGGAG | ||
| XR_001753686.2:n.652_653insGCTCGGAG | ||
| NM_000527.5:c.535_536insGCTCGGAG MANE Select | NP_000518.1:p.Glu179GlyfsTer30 | |
| NM_001195798.2:c.535_536insGCTCGGAG | NP_001182727.1:p.Glu179GlyfsTer30 | |
| NM_001195799.2:c.412_413insGCTCGGAG | NP_001182728.1:p.Glu138GlyfsTer30 | |
| NM_001195800.2:c.314-1951_314-1950insGCTCGGAG | NP_001182729.1:n.314-1951_314-1950insGCTCGGAG | |
| NM_001195803.2:c.314-1124_314-1123insGCTCGGAG | NP_001182732.1:n.314-1124_314-1123insGCTCGGAG |