Linked Data
ClinVar Variation Id:
440596
ClinVar RCV Id:
RCV000508721
dbSNP Id:
rs879254641
MyVariant Identifiers:
chr19:g.11216264_11216265insGACAAATCTGAG (hg19)
chr19:g.11105588_11105589insGACAAATCTGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105588_11105589insGACAAATCTGAG , CM000681.2:g.11105588_11105589insGACAAATCTGAG | GRCh38 |
| NC_000019.9:g.11216264_11216265insGACAAATCTGAG , CM000681.1:g.11216264_11216265insGACAAATCTGAG | GRCh37 |
| NC_000019.8:g.11077264_11077265insGACAAATCTGAG | NCBI36 |
| NG_009060.1:g.21208_21209insGACAAATCTGAG , LRG_274:g.21208_21209insGACAAATCTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.940_941insGACAAATCTGAG | ENSP00000252444.6:p.Glu314GlyfsTer4 | |
| ENST00000559340.2:c.682_683insGACAAATCTGAG | ENSP00000453696.2:p.Glu228GlyfsTer4 | |
| ENST00000560467.2:c.682_683insGACAAATCTGAG | ENSP00000453513.2:p.Glu228GlyfsTer4 | |
| ENST00000558518.6:c.682_683insGACAAATCTGAG MANE Select | ENSP00000454071.1:p.Glu228GlyfsTer4 | |
| ENST00000252444.9:c.936_937insGACAAATCTGAG | ||
| ENST00000455727.6:c.314-1804_314-1803insGACAAATCTGAG | ENSP00000397829.2:n.314-1804_314-1803insGACAAATCTGAG | |
| ENST00000535915.5:c.559_560insGACAAATCTGAG | ENSP00000440520.1:p.Glu187GlyfsTer4 | |
| ENST00000545707.5:c.314-977_314-976insGACAAATCTGAG | ENSP00000437639.1:n.314-977_314-976insGACAAATCTGAG | |
| ENST00000557933.5:c.682_683insGACAAATCTGAG | ENSP00000453557.1:p.Glu228GlyfsTer4 | |
| ENST00000558013.5:c.682_683insGACAAATCTGAG | ENSP00000453346.1:p.Glu228GlyfsTer4 | |
| ENST00000558518.5:c.682_683insGACAAATCTGAG | ENSP00000454071.1:p.Glu228GlyfsTer4 | |
| ENST00000560467.1:c.282_283insGACAAATCTGAG | ||
| NM_000527.4:c.682_683insGACAAATCTGAG , LRG_274t1:c.682_683insGACAAATCTGAG | NP_000518.1:p.Glu228GlyfsTer4 | |
| NM_001195798.1:c.682_683insGACAAATCTGAG | NP_001182727.1:p.Glu228GlyfsTer4 | |
| NM_001195799.1:c.559_560insGACAAATCTGAG | NP_001182728.1:p.Glu187GlyfsTer4 | |
| NM_001195800.1:c.314-1804_314-1803insGACAAATCTGAG | NP_001182729.1:n.314-1804_314-1803insGACAAATCTGAG | |
| NM_001195803.1:c.314-977_314-976insGACAAATCTGAG | NP_001182732.1:n.314-977_314-976insGACAAATCTGAG | |
| XM_011528010.1:c.682_683insGACAAATCTGAG | XP_011526312.1:p.Glu228GlyfsTer4 | |
| XM_011528011.1:c.314-977_314-976insGACAAATCTGAG | XP_011526313.1:n.314-977_314-976insGACAAATCTGAG | |
| XR_244074.2:n.832_833insGACAAATCTGAG | ||
| XM_011528010.2:c.682_683insGACAAATCTGAG | XP_011526312.1:p.Glu228GlyfsTer4 | |
| XR_001753685.2:n.799_800insGACAAATCTGAG | ||
| XR_001753686.2:n.799_800insGACAAATCTGAG | ||
| NM_000527.5:c.682_683insGACAAATCTGAG MANE Select | NP_000518.1:p.Glu228GlyfsTer4 | |
| NM_001195798.2:c.682_683insGACAAATCTGAG | NP_001182727.1:p.Glu228GlyfsTer4 | |
| NM_001195799.2:c.559_560insGACAAATCTGAG | NP_001182728.1:p.Glu187GlyfsTer4 | |
| NM_001195800.2:c.314-1804_314-1803insGACAAATCTGAG | NP_001182729.1:n.314-1804_314-1803insGACAAATCTGAG | |
| NM_001195803.2:c.314-977_314-976insGACAAATCTGAG | NP_001182732.1:n.314-977_314-976insGACAAATCTGAG |