Linked Data
ClinVar Variation Id:
251383
ClinVar RCV Id:
RCV000238266
dbSNP Id:
rs879254634
MyVariant Identifiers:
chr19:g.11216258_11216266dupTCTGACGAG (hg19)
chr19:g.11105582_11105590dupTCTGACGAG (hg38)
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105582_11105590dup , CM000681.2:g.11105582_11105590dup | GRCh38 |
| NC_000019.9:g.11216258_11216266dup , CM000681.1:g.11216258_11216266dup | GRCh37 |
| NC_000019.8:g.11077258_11077266dup | NCBI36 |
| NG_009060.1:g.21202_21210dup , LRG_274:g.21202_21210dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.934_942dup | ENSP00000252444.6:p.Glu314_Glu315insSerAspGlu | |
| ENST00000559340.2:c.676_684dup | ENSP00000453696.2:p.Glu228_Glu229insSerAspGlu | |
| ENST00000560467.2:c.676_684dup | ENSP00000453513.2:p.Glu228_Glu229insSerAspGlu | |
| ENST00000558518.6:c.676_684dup MANE Select | ENSP00000454071.1:p.Glu228_Glu229insSerAspGlu | |
| ENST00000252444.9:c.930_938dup | ||
| ENST00000455727.6:c.314-1810_314-1802dup | ENSP00000397829.2:n.314-1810_314-1802dup | |
| ENST00000535915.5:c.553_561dup | ENSP00000440520.1:p.Glu187_Glu188insSerAspGlu | |
| ENST00000545707.5:c.314-983_314-975dup | ENSP00000437639.1:n.314-983_314-975dup | |
| ENST00000557933.5:c.676_684dup | ENSP00000453557.1:p.Glu228_Glu229insSerAspGlu | |
| ENST00000558013.5:c.676_684dup | ENSP00000453346.1:p.Glu228_Glu229insSerAspGlu | |
| ENST00000558518.5:c.676_684dup | ENSP00000454071.1:p.Glu228_Glu229insSerAspGlu | |
| ENST00000560467.1:c.276_284dup | ||
| NM_000527.4:c.676_684dup , LRG_274t1:c.676_684dup | NP_000518.1:p.Glu228_Glu229insSerAspGlu | |
| NM_001195798.1:c.676_684dup | NP_001182727.1:p.Glu228_Glu229insSerAspGlu | |
| NM_001195799.1:c.553_561dup | NP_001182728.1:p.Glu187_Glu188insSerAspGlu | |
| NM_001195800.1:c.314-1810_314-1802dup | NP_001182729.1:n.314-1810_314-1802dup | |
| NM_001195803.1:c.314-983_314-975dup | NP_001182732.1:n.314-983_314-975dup | |
| XM_011528010.1:c.676_684dup | XP_011526312.1:p.Glu228_Glu229insSerAspGlu | |
| XM_011528011.1:c.314-983_314-975dup | XP_011526313.1:n.314-983_314-975dup | |
| XR_244074.2:n.826_834dup | ||
| XM_011528010.2:c.676_684dup | XP_011526312.1:p.Glu228_Glu229insSerAspGlu | |
| XR_001753685.2:n.793_801dup | ||
| XR_001753686.2:n.793_801dup | ||
| NM_000527.5:c.676_684dup MANE Select | NP_000518.1:p.Glu228_Glu229insSerAspGlu | |
| NM_001195798.2:c.676_684dup | NP_001182727.1:p.Glu228_Glu229insSerAspGlu | |
| NM_001195799.2:c.553_561dup | NP_001182728.1:p.Glu187_Glu188insSerAspGlu | |
| NM_001195800.2:c.314-1810_314-1802dup | NP_001182729.1:n.314-1810_314-1802dup | |
| NM_001195803.2:c.314-983_314-975dup | NP_001182732.1:n.314-983_314-975dup |