Linked Data
ClinVar Variation Id:
251369
dbSNP Id:
rs879254626
MyVariant Identifiers:
chr19:g.11216251_11216262dupGGACAAATCTGA (hg19)
chr19:g.11105575_11105586dupGGACAAATCTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105575_11105586dup , CM000681.2:g.11105575_11105586dup | GRCh38 |
| NC_000019.9:g.11216251_11216262dup , CM000681.1:g.11216251_11216262dup | GRCh37 |
| NC_000019.8:g.11077251_11077262dup | NCBI36 |
| NG_009060.1:g.21195_21206dup , LRG_274:g.21195_21206dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.927_938dup | ENSP00000252444.6:p.Ser312_Asp313insGluAspLysSer | |
| ENST00000559340.2:c.669_680dup | ENSP00000453696.2:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000560467.2:c.669_680dup | ENSP00000453513.2:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000558518.6:c.669_680dup MANE Select | ENSP00000454071.1:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000252444.9:c.923_934dup | ||
| ENST00000455727.6:c.314-1817_314-1806dup | ENSP00000397829.2:n.314-1817_314-1806dup | |
| ENST00000535915.5:c.546_557dup | ENSP00000440520.1:p.Ser185_Asp186insGluAspLysSer | |
| ENST00000545707.5:c.314-990_314-979dup | ENSP00000437639.1:n.314-990_314-979dup | |
| ENST00000557933.5:c.669_680dup | ENSP00000453557.1:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000558013.5:c.669_680dup | ENSP00000453346.1:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000558518.5:c.669_680dup | ENSP00000454071.1:p.Ser226_Asp227insGluAspLysSer | |
| ENST00000560467.1:c.269_280dup | ||
| NM_000527.4:c.669_680dup , LRG_274t1:c.669_680dup | NP_000518.1:p.Ser226_Asp227insGluAspLysSer | |
| NM_001195798.1:c.669_680dup | NP_001182727.1:p.Ser226_Asp227insGluAspLysSer | |
| NM_001195799.1:c.546_557dup | NP_001182728.1:p.Ser185_Asp186insGluAspLysSer | |
| NM_001195800.1:c.314-1817_314-1806dup | NP_001182729.1:n.314-1817_314-1806dup | |
| NM_001195803.1:c.314-990_314-979dup | NP_001182732.1:n.314-990_314-979dup | |
| XM_011528010.1:c.669_680dup | XP_011526312.1:p.Ser226_Asp227insGluAspLysSer | |
| XM_011528011.1:c.314-990_314-979dup | XP_011526313.1:n.314-990_314-979dup | |
| XR_244074.2:n.819_830dup | ||
| XM_011528010.2:c.669_680dup | XP_011526312.1:p.Ser226_Asp227insGluAspLysSer | |
| XR_001753685.2:n.786_797dup | ||
| XR_001753686.2:n.786_797dup | ||
| NM_000527.5:c.669_680dup MANE Select | NP_000518.1:p.Ser226_Asp227insGluAspLysSer | |
| NM_001195798.2:c.669_680dup | NP_001182727.1:p.Ser226_Asp227insGluAspLysSer | |
| NM_001195799.2:c.546_557dup | NP_001182728.1:p.Ser185_Asp186insGluAspLysSer | |
| NM_001195800.2:c.314-1817_314-1806dup | NP_001182729.1:n.314-1817_314-1806dup | |
| NM_001195803.2:c.314-990_314-979dup | NP_001182732.1:n.314-990_314-979dup |