Linked Data
ClinVar Variation Id:
403646
dbSNP Id:
rs1555808044
MyVariant Identifiers:
chr19:g.11233889_11233893dupTCAGG (hg19)
chr19:g.11123213_11123217dupTCAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123213_11123217dup , CM000681.2:g.11123213_11123217dup | GRCh38 |
| NC_000019.9:g.11233889_11233893dup , CM000681.1:g.11233889_11233893dup | GRCh37 |
| NC_000019.8:g.11094889_11094893dup | NCBI36 |
| NG_009060.1:g.38833_38837dup , LRG_274:g.38833_38837dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2438_2442dup | ENSP00000252444.6:p.Leu815SerfsTer3 | |
| ENST00000559340.2:c.*249_*253dup | ENSP00000453696.2:n.*249_*253dup | |
| ENST00000560467.2:c.2060_2064dup | ENSP00000453513.2:p.Leu689SerfsTer3 | |
| ENST00000558518.6:c.2180_2184dup MANE Select | ENSP00000454071.1:p.Leu729SerfsTer3 | |
| ENST00000252444.9:c.2434_2438dup | ||
| ENST00000455727.6:c.1676_1680dup | ENSP00000397829.2:p.Leu561SerfsTer3 | |
| ENST00000535915.5:c.2057_2061dup | ENSP00000440520.1:p.Leu688SerfsTer3 | |
| ENST00000545707.5:c.1646_1650dup | ENSP00000437639.1:p.Leu551SerfsTer3 | |
| ENST00000557933.5:c.2180_2184dup | ENSP00000453557.1:p.Leu729SerfsTer3 | |
| ENST00000558013.5:c.2180_2184dup | ENSP00000453346.1:p.Leu729SerfsTer3 | |
| ENST00000558518.5:c.2180_2184dup | ENSP00000454071.1:p.Leu729SerfsTer3 | |
| NM_000527.4:c.2180_2184dup , LRG_274t1:c.2180_2184dup | NP_000518.1:p.Leu729SerfsTer3 | |
| NM_001195798.1:c.2180_2184dup | NP_001182727.1:p.Leu729SerfsTer3 | |
| NM_001195799.1:c.2057_2061dup | NP_001182728.1:p.Leu688SerfsTer3 | |
| NM_001195800.1:c.1676_1680dup | NP_001182729.1:p.Leu561SerfsTer3 | |
| NM_001195803.1:c.1646_1650dup | NP_001182732.1:p.Leu551SerfsTer3 | |
| XM_011528010.1:c.2180_2184dup | XP_011526312.1:p.Leu729SerfsTer3 | |
| XM_011528011.1:c.1799_1803dup | XP_011526313.1:p.Leu602SerfsTer3 | |
| XR_244074.2:n.2190_2194dup | ||
| XM_011528010.2:c.2180_2184dup | XP_011526312.1:p.Leu729SerfsTer3 | |
| XR_001753685.2:n.2514_2518dup | ||
| XR_001753686.2:n.2157_2161dup | ||
| NM_000527.5:c.2180_2184dup MANE Select | NP_000518.1:p.Leu729SerfsTer3 | |
| NM_001195798.2:c.2180_2184dup | NP_001182727.1:p.Leu729SerfsTer3 | |
| NM_001195799.2:c.2057_2061dup | NP_001182728.1:p.Leu688SerfsTer3 | |
| NM_001195800.2:c.1676_1680dup | NP_001182729.1:p.Leu561SerfsTer3 | |
| NM_001195803.2:c.1646_1650dup | NP_001182732.1:p.Leu551SerfsTer3 |