Linked Data
ClinVar Variation Id:
252133
ClinVar RCV Id:
RCV000237532
dbSNP Id:
rs879255088
MyVariant Identifiers:
chr19:g.11230883_11230887dupTCTTC (hg19)
chr19:g.11120207_11120211dupTCTTC (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120207_11120211dup , CM000681.2:g.11120207_11120211dup | GRCh38 |
| NC_000019.9:g.11230883_11230887dup , CM000681.1:g.11230883_11230887dup | GRCh37 |
| NC_000019.8:g.11091883_11091887dup | NCBI36 |
| NG_009060.1:g.35827_35831dup , LRG_274:g.35827_35831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2219_2223dup | ENSP00000252444.6:p.His742SerfsTer11 | |
| ENST00000559340.2:c.*30_*34dup | ENSP00000453696.2:n.*30_*34dup | |
| ENST00000560467.2:c.1841_1845dup | ENSP00000453513.2:p.His616SerfsTer11 | |
| ENST00000558518.6:c.1961_1965dup MANE Select | ENSP00000454071.1:p.His656SerfsTer11 | |
| ENST00000252444.9:c.2215_2219dup | ||
| ENST00000455727.6:c.1457_1461dup | ENSP00000397829.2:p.His488SerfsTer11 | |
| ENST00000535915.5:c.1838_1842dup | ENSP00000440520.1:p.His615SerfsTer11 | |
| ENST00000545707.5:c.1580_1584dup | ENSP00000437639.1:p.His529SerfsTer25 | |
| ENST00000557933.5:c.1961_1965dup | ENSP00000453557.1:p.His656SerfsTer11 | |
| ENST00000558013.5:c.1961_1965dup | ENSP00000453346.1:p.His656SerfsTer11 | |
| ENST00000558518.5:c.1961_1965dup | ENSP00000454071.1:p.His656SerfsTer11 | |
| ENST00000559340.1:c.542_546dup | ||
| NM_000527.4:c.1961_1965dup , LRG_274t1:c.1961_1965dup | NP_000518.1:p.His656SerfsTer11 | |
| NM_001195798.1:c.1961_1965dup | NP_001182727.1:p.His656SerfsTer11 | |
| NM_001195799.1:c.1838_1842dup | NP_001182728.1:p.His615SerfsTer11 | |
| NM_001195800.1:c.1457_1461dup | NP_001182729.1:p.His488SerfsTer11 | |
| NM_001195803.1:c.1580_1584dup | NP_001182732.1:p.His529SerfsTer25 | |
| XM_011528010.1:c.1961_1965dup | XP_011526312.1:p.His656SerfsTer11 | |
| XM_011528011.1:c.1580_1584dup | XP_011526313.1:p.His529SerfsTer11 | |
| XR_244074.2:n.1971_1975dup | ||
| XM_011528010.2:c.1961_1965dup | XP_011526312.1:p.His656SerfsTer11 | |
| XR_001753685.2:n.2078_2082dup | ||
| XR_001753686.2:n.1938_1942dup | ||
| NM_000527.5:c.1961_1965dup MANE Select | NP_000518.1:p.His656SerfsTer11 | |
| NM_001195798.2:c.1961_1965dup | NP_001182727.1:p.His656SerfsTer11 | |
| NM_001195799.2:c.1838_1842dup | NP_001182728.1:p.His615SerfsTer11 | |
| NM_001195800.2:c.1457_1461dup | NP_001182729.1:p.His488SerfsTer11 | |
| NM_001195803.2:c.1580_1584dup | NP_001182732.1:p.His529SerfsTer25 |