Linked Data
ClinVar Variation Id:
251270
ClinVar RCV Id:
RCV000237517
dbSNP Id:
rs879254556
MyVariant Identifiers:
chr19:g.11216098_11216106dupCTGCGAAGA (hg19)
chr19:g.11105422_11105430dupCTGCGAAGA (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105422_11105430dup , CM000681.2:g.11105422_11105430dup | GRCh38 |
| NC_000019.9:g.11216098_11216106dup , CM000681.1:g.11216098_11216106dup | GRCh37 |
| NC_000019.8:g.11077098_11077106dup | NCBI36 |
| NG_009060.1:g.21042_21050dup , LRG_274:g.21042_21050dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.774_782dup | ENSP00000252444.6:p.Asp261_Gly262insCysGluAsp | |
| ENST00000559340.2:c.516_524dup | ENSP00000453696.2:p.Asp175_Gly176insCysGluAsp | |
| ENST00000560467.2:c.516_524dup | ENSP00000453513.2:p.Asp175_Gly176insCysGluAsp | |
| ENST00000558518.6:c.516_524dup MANE Select | ENSP00000454071.1:p.Asp175_Gly176insCysGluAsp | |
| ENST00000252444.9:c.770_778dup | ||
| ENST00000455727.6:c.314-1970_314-1962dup | ENSP00000397829.2:n.314-1970_314-1962dup | |
| ENST00000535915.5:c.393_401dup | ENSP00000440520.1:p.Asp134_Gly135insCysGluAsp | |
| ENST00000545707.5:c.314-1143_314-1135dup | ENSP00000437639.1:n.314-1143_314-1135dup | |
| ENST00000557933.5:c.516_524dup | ENSP00000453557.1:p.Asp175_Gly176insCysGluAsp | |
| ENST00000558013.5:c.516_524dup | ENSP00000453346.1:p.Asp175_Gly176insCysGluAsp | |
| ENST00000558518.5:c.516_524dup | ENSP00000454071.1:p.Asp175_Gly176insCysGluAsp | |
| ENST00000560467.1:c.116_124dup | ||
| NM_000527.4:c.516_524dup , LRG_274t1:c.516_524dup | NP_000518.1:p.Asp175_Gly176insCysGluAsp | |
| NM_001195798.1:c.516_524dup | NP_001182727.1:p.Asp175_Gly176insCysGluAsp | |
| NM_001195799.1:c.393_401dup | NP_001182728.1:p.Asp134_Gly135insCysGluAsp | |
| NM_001195800.1:c.314-1970_314-1962dup | NP_001182729.1:n.314-1970_314-1962dup | |
| NM_001195803.1:c.314-1143_314-1135dup | NP_001182732.1:n.314-1143_314-1135dup | |
| XM_011528010.1:c.516_524dup | XP_011526312.1:p.Asp175_Gly176insCysGluAsp | |
| XM_011528011.1:c.314-1143_314-1135dup | XP_011526313.1:n.314-1143_314-1135dup | |
| XR_244074.2:n.666_674dup | ||
| XM_011528010.2:c.516_524dup | XP_011526312.1:p.Asp175_Gly176insCysGluAsp | |
| XR_001753685.2:n.633_641dup | ||
| XR_001753686.2:n.633_641dup | ||
| NM_000527.5:c.516_524dup MANE Select | NP_000518.1:p.Asp175_Gly176insCysGluAsp | |
| NM_001195798.2:c.516_524dup | NP_001182727.1:p.Asp175_Gly176insCysGluAsp | |
| NM_001195799.2:c.393_401dup | NP_001182728.1:p.Asp134_Gly135insCysGluAsp | |
| NM_001195800.2:c.314-1970_314-1962dup | NP_001182729.1:n.314-1970_314-1962dup | |
| NM_001195803.2:c.314-1143_314-1135dup | NP_001182732.1:n.314-1143_314-1135dup |