Linked Data
ClinVar Variation Id:
252019
ClinVar RCV Id:
RCV000237351
dbSNP Id:
rs879255013
PubMed:
PMID:20828696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116909del , CM000681.2:g.11116909del | GRCh38 |
| NC_000019.9:g.11227585del , CM000681.1:g.11227585del | GRCh37 |
| NC_000019.8:g.11088585del | NCBI36 |
| NG_009060.1:g.32529del , LRG_274:g.32529del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2014del | ENSP00000252444.6:p.Ser672GlnfsTer? | |
| ENST00000559340.2:c.1705+697del | ENSP00000453696.2:n.1705+697del | |
| ENST00000560467.2:c.1636del | ENSP00000453513.2:p.Ser546GlnfsTer? | |
| ENST00000558518.6:c.1756del MANE Select | ENSP00000454071.1:p.Ser586GlnfsTer? | |
| ENST00000252444.9:c.2010del | ||
| ENST00000455727.6:c.1252del | ENSP00000397829.2:p.Ser418GlnfsTer? | |
| ENST00000535915.5:c.1633del | ENSP00000440520.1:p.Ser545GlnfsTer? | |
| ENST00000545707.5:c.1375del | ENSP00000437639.1:p.Ser459GlnfsTer? | |
| ENST00000557933.5:c.1756del | ENSP00000453557.1:p.Ser586GlnfsTer? | |
| ENST00000558013.5:c.1756del | ENSP00000453346.1:p.Ser586GlnfsTer? | |
| ENST00000558518.5:c.1756del | ENSP00000454071.1:p.Ser586GlnfsTer? | |
| ENST00000559340.1:c.426+697del | ||
| NM_000527.4:c.1756del , LRG_274t1:c.1756del | NP_000518.1:p.Ser586GlnfsTer? | |
| NM_001195798.1:c.1756del | NP_001182727.1:p.Ser586GlnfsTer? | |
| NM_001195799.1:c.1633del | NP_001182728.1:p.Ser545GlnfsTer? | |
| NM_001195800.1:c.1252del | NP_001182729.1:p.Ser418GlnfsTer? | |
| NM_001195803.1:c.1375del | NP_001182732.1:p.Ser459GlnfsTer? | |
| XM_011528010.1:c.1756del | XP_011526312.1:p.Ser586GlnfsTer? | |
| XM_011528011.1:c.1375del | XP_011526313.1:p.Ser459GlnfsTer? | |
| XR_244074.2:n.1855+697del | ||
| XM_011528010.2:c.1756del | XP_011526312.1:p.Ser586GlnfsTer? | |
| XR_001753685.2:n.1873del | ||
| XR_001753686.2:n.1822+697del | ||
| NM_000527.5:c.1756del MANE Select | NP_000518.1:p.Ser586GlnfsTer? | |
| NM_001195798.2:c.1756del | NP_001182727.1:p.Ser586GlnfsTer? | |
| NM_001195799.2:c.1633del | NP_001182728.1:p.Ser545GlnfsTer? | |
| NM_001195800.2:c.1252del | NP_001182729.1:p.Ser418GlnfsTer? | |
| NM_001195803.2:c.1375del | NP_001182732.1:p.Ser459GlnfsTer? |