Linked Data
ClinVar Variation Id:
251923
ClinVar RCV Id:
RCV000238531
dbSNP Id:
rs879254949
PubMed:
PMID:19318025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116094_11116098del , CM000681.2:g.11116094_11116098del | GRCh38 |
| NC_000019.9:g.11226770_11226774del , CM000681.1:g.11226770_11226774del | GRCh37 |
| NC_000019.8:g.11087770_11087774del | NCBI36 |
| NG_009060.1:g.31714_31718del , LRG_274:g.31714_31718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1845_1849del | ENSP00000252444.6:p.Phe616ValfsTer4 | |
| ENST00000559340.2:c.1587_1591del | ENSP00000453696.2:p.Phe530ValfsTer4 | |
| ENST00000560467.2:c.1467_1471del | ENSP00000453513.2:p.Phe490ValfsTer4 | |
| ENST00000558518.6:c.1587_1591del MANE Select | ENSP00000454071.1:p.Phe530ValfsTer4 | |
| ENST00000252444.9:c.1841_1845del | ||
| ENST00000455727.6:c.1083_1087del | ENSP00000397829.2:p.Phe362ValfsTer4 | |
| ENST00000535915.5:c.1464_1468del | ENSP00000440520.1:p.Phe489ValfsTer4 | |
| ENST00000545707.5:c.1206_1210del | ENSP00000437639.1:p.Phe403ValfsTer4 | |
| ENST00000557933.5:c.1587_1591del | ENSP00000453557.1:p.Phe530ValfsTer4 | |
| ENST00000558013.5:c.1587_1591del | ENSP00000453346.1:p.Phe530ValfsTer4 | |
| ENST00000558518.5:c.1587_1591del | ENSP00000454071.1:p.Phe530ValfsTer4 | |
| ENST00000559340.1:c.308_312del | ||
| NM_000527.4:c.1587_1591del , LRG_274t1:c.1587_1591del | NP_000518.1:p.Phe530ValfsTer4 | |
| NM_001195798.1:c.1587_1591del | NP_001182727.1:p.Phe530ValfsTer4 | |
| NM_001195799.1:c.1464_1468del | NP_001182728.1:p.Phe489ValfsTer4 | |
| NM_001195800.1:c.1083_1087del | NP_001182729.1:p.Phe362ValfsTer4 | |
| NM_001195803.1:c.1206_1210del | NP_001182732.1:p.Phe403ValfsTer4 | |
| XM_011528010.1:c.1587_1591del | XP_011526312.1:p.Phe530ValfsTer4 | |
| XM_011528011.1:c.1206_1210del | XP_011526313.1:p.Phe403ValfsTer4 | |
| XR_244074.2:n.1737_1741del | ||
| XM_011528010.2:c.1587_1591del | XP_011526312.1:p.Phe530ValfsTer4 | |
| XR_001753685.2:n.1704_1708del | ||
| XR_001753686.2:n.1704_1708del | ||
| NM_000527.5:c.1587_1591del MANE Select | NP_000518.1:p.Phe530ValfsTer4 | |
| NM_001195798.2:c.1587_1591del | NP_001182727.1:p.Phe530ValfsTer4 | |
| NM_001195799.2:c.1464_1468del | NP_001182728.1:p.Phe489ValfsTer4 | |
| NM_001195800.2:c.1083_1087del | NP_001182729.1:p.Phe362ValfsTer4 | |
| NM_001195803.2:c.1206_1210del | NP_001182732.1:p.Phe403ValfsTer4 |