Linked Data
ClinVar Variation Id:
252261
ClinVar RCV Id:
RCV000237555
dbSNP Id:
rs879255167
gnomAD v2:
19-11233936-AC-A
gnomAD v4:
19-11123260-AC-A
MyVariant Identifiers:
chr19:g.11233939del (hg19)
chr19:g.11233937del (hg19)
chr19:g.11123263del (hg38)
chr19:g.11123261del (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123263del , CM000681.2:g.11123263del | GRCh38 |
| NC_000019.9:g.11233939del , CM000681.1:g.11233939del | GRCh37 |
| NC_000019.8:g.11094939del | NCBI36 |
| NG_009060.1:g.38883del , LRG_274:g.38883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2488del | ENSP00000252444.6:p.Arg830AspfsTer21 | |
| ENST00000559340.2:c.*299del | ENSP00000453696.2:n.*299del | |
| ENST00000560467.2:c.2110del | ENSP00000453513.2:p.Arg704AspfsTer21 | |
| ENST00000558518.6:c.2230del MANE Select | ENSP00000454071.1:p.Arg744AspfsTer21 | |
| ENST00000252444.9:c.2484del | ||
| ENST00000455727.6:c.1726del | ENSP00000397829.2:p.Arg576AspfsTer21 | |
| ENST00000535915.5:c.2107del | ENSP00000440520.1:p.Arg703AspfsTer21 | |
| ENST00000545707.5:c.1696del | ENSP00000437639.1:p.Arg566AspfsTer21 | |
| ENST00000557933.5:c.2230del | ENSP00000453557.1:p.Arg744AspfsTer21 | |
| ENST00000558013.5:c.2230del | ENSP00000453346.1:p.Arg744AspfsTer21 | |
| ENST00000558518.5:c.2230del | ENSP00000454071.1:p.Arg744AspfsTer21 | |
| NM_000527.4:c.2230del , LRG_274t1:c.2230del | NP_000518.1:p.Arg744AspfsTer21 | |
| NM_001195798.1:c.2230del | NP_001182727.1:p.Arg744AspfsTer21 | |
| NM_001195799.1:c.2107del | NP_001182728.1:p.Arg703AspfsTer21 | |
| NM_001195800.1:c.1726del | NP_001182729.1:p.Arg576AspfsTer21 | |
| NM_001195803.1:c.1696del | NP_001182732.1:p.Arg566AspfsTer21 | |
| XM_011528010.1:c.2230del | XP_011526312.1:p.Arg744AspfsTer21 | |
| XM_011528011.1:c.1849del | XP_011526313.1:p.Arg617AspfsTer21 | |
| XR_244074.2:n.2240del | ||
| XM_011528010.2:c.2230del | XP_011526312.1:p.Arg744AspfsTer21 | |
| XR_001753685.2:n.2564del | ||
| XR_001753686.2:n.2207del | ||
| NM_000527.5:c.2230del MANE Select | NP_000518.1:p.Arg744AspfsTer21 | |
| NM_001195798.2:c.2230del | NP_001182727.1:p.Arg744AspfsTer21 | |
| NM_001195799.2:c.2107del | NP_001182728.1:p.Arg703AspfsTer21 | |
| NM_001195800.2:c.1726del | NP_001182729.1:p.Arg576AspfsTer21 | |
| NM_001195803.2:c.1696del | NP_001182732.1:p.Arg566AspfsTer21 |