Linked Data
ClinVar Variation Id:
252002
ClinVar RCV Id:
RCV000237784
dbSNP Id:
rs879255001
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116883_11116891del , CM000681.2:g.11116883_11116891del | GRCh38 |
| NC_000019.9:g.11227559_11227567del , CM000681.1:g.11227559_11227567del | GRCh37 |
| NC_000019.8:g.11088559_11088567del | NCBI36 |
| NG_009060.1:g.32503_32511del , LRG_274:g.32503_32511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1988_1996del | ENSP00000252444.6:p.Trp663_Asp665del | |
| ENST00000559340.2:c.1705+671_1705+679del | ENSP00000453696.2:n.1705+671_1705+679del | |
| ENST00000560467.2:c.1610_1618del | ENSP00000453513.2:p.Trp537_Asp539del | |
| ENST00000558518.6:c.1730_1738del MANE Select | ENSP00000454071.1:p.Trp577_Asp579del | |
| ENST00000252444.9:c.1984_1992del | ||
| ENST00000455727.6:c.1226_1234del | ENSP00000397829.2:p.Trp409_Asp411del | |
| ENST00000535915.5:c.1607_1615del | ENSP00000440520.1:p.Trp536_Asp538del | |
| ENST00000545707.5:c.1349_1357del | ENSP00000437639.1:p.Trp450_Asp452del | |
| ENST00000557933.5:c.1730_1738del | ENSP00000453557.1:p.Trp577_Asp579del | |
| ENST00000558013.5:c.1730_1738del | ENSP00000453346.1:p.Trp577_Asp579del | |
| ENST00000558518.5:c.1730_1738del | ENSP00000454071.1:p.Trp577_Asp579del | |
| ENST00000559340.1:c.426+671_426+679del | ||
| NM_000527.4:c.1730_1738del , LRG_274t1:c.1730_1738del | NP_000518.1:p.Trp577_Asp579del | |
| NM_001195798.1:c.1730_1738del | NP_001182727.1:p.Trp577_Asp579del | |
| NM_001195799.1:c.1607_1615del | NP_001182728.1:p.Trp536_Asp538del | |
| NM_001195800.1:c.1226_1234del | NP_001182729.1:p.Trp409_Asp411del | |
| NM_001195803.1:c.1349_1357del | NP_001182732.1:p.Trp450_Asp452del | |
| XM_011528010.1:c.1730_1738del | XP_011526312.1:p.Trp577_Asp579del | |
| XM_011528011.1:c.1349_1357del | XP_011526313.1:p.Trp450_Asp452del | |
| XR_244074.2:n.1855+671_1855+679del | ||
| XM_011528010.2:c.1730_1738del | XP_011526312.1:p.Trp577_Asp579del | |
| XR_001753685.2:n.1847_1855del | ||
| XR_001753686.2:n.1822+671_1822+679del | ||
| NM_000527.5:c.1730_1738del MANE Select | NP_000518.1:p.Trp577_Asp579del | |
| NM_001195798.2:c.1730_1738del | NP_001182727.1:p.Trp577_Asp579del | |
| NM_001195799.2:c.1607_1615del | NP_001182728.1:p.Trp536_Asp538del | |
| NM_001195800.2:c.1226_1234del | NP_001182729.1:p.Trp409_Asp411del | |
| NM_001195803.2:c.1349_1357del | NP_001182732.1:p.Trp450_Asp452del |