Linked Data
ClinVar Variation Id:
251493
ClinVar RCV Id:
RCV000238004
dbSNP Id:
rs879254698
MyVariant Identifiers:
chr19:g.11218119_11218121dupTCA (hg19)
chr19:g.11107443_11107445dupTCA (hg38)
PubMed:
PMID:19318025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107443_11107445dup , CM000681.2:g.11107443_11107445dup | GRCh38 |
| NC_000019.9:g.11218119_11218121dup , CM000681.1:g.11218119_11218121dup | GRCh37 |
| NC_000019.8:g.11079119_11079121dup | NCBI36 |
| NG_009060.1:g.23063_23065dup , LRG_274:g.23063_23065dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1127_1129dup | ENSP00000252444.6:p.Ile376_Thr377insIle | |
| ENST00000559340.2:c.869_871dup | ENSP00000453696.2:p.Ile290_Thr291insIle | |
| ENST00000560467.2:c.869_871dup | ENSP00000453513.2:p.Ile290_Thr291insIle | |
| ENST00000558518.6:c.869_871dup MANE Select | ENSP00000454071.1:p.Ile290_Thr291insIle | |
| ENST00000252444.9:c.1123_1125dup | ||
| ENST00000455727.6:c.365_367dup | ENSP00000397829.2:p.Ile122_Thr123insIle | |
| ENST00000535915.5:c.746_748dup | ENSP00000440520.1:p.Ile249_Thr250insIle | |
| ENST00000545707.5:c.488_490dup | ENSP00000437639.1:p.Ile163_Thr164insIle | |
| ENST00000557933.5:c.869_871dup | ENSP00000453557.1:p.Ile290_Thr291insIle | |
| ENST00000558013.5:c.869_871dup | ENSP00000453346.1:p.Ile290_Thr291insIle | |
| ENST00000558518.5:c.869_871dup | ENSP00000454071.1:p.Ile290_Thr291insIle | |
| ENST00000558528.1:n.384_386dup | ||
| ENST00000560467.1:c.469_471dup | ||
| NM_000527.4:c.869_871dup , LRG_274t1:c.869_871dup | NP_000518.1:p.Ile290_Thr291insIle | |
| NM_001195798.1:c.869_871dup | NP_001182727.1:p.Ile290_Thr291insIle | |
| NM_001195799.1:c.746_748dup | NP_001182728.1:p.Ile249_Thr250insIle | |
| NM_001195800.1:c.365_367dup | NP_001182729.1:p.Ile122_Thr123insIle | |
| NM_001195803.1:c.488_490dup | NP_001182732.1:p.Ile163_Thr164insIle | |
| XM_011528010.1:c.869_871dup | XP_011526312.1:p.Ile290_Thr291insIle | |
| XM_011528011.1:c.488_490dup | XP_011526313.1:p.Ile163_Thr164insIle | |
| XR_244074.2:n.1019_1021dup | ||
| XM_011528010.2:c.869_871dup | XP_011526312.1:p.Ile290_Thr291insIle | |
| XR_001753685.2:n.986_988dup | ||
| XR_001753686.2:n.986_988dup | ||
| NM_000527.5:c.869_871dup MANE Select | NP_000518.1:p.Ile290_Thr291insIle | |
| NM_001195798.2:c.869_871dup | NP_001182727.1:p.Ile290_Thr291insIle | |
| NM_001195799.2:c.746_748dup | NP_001182728.1:p.Ile249_Thr250insIle | |
| NM_001195800.2:c.365_367dup | NP_001182729.1:p.Ile122_Thr123insIle | |
| NM_001195803.2:c.488_490dup | NP_001182732.1:p.Ile163_Thr164insIle |