Linked Data
ClinVar Variation Id:
251330
ClinVar RCV Id:
RCV000237715
dbSNP Id:
rs879254598
PubMed:
PMID:10978268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105529_11105550del , CM000681.2:g.11105529_11105550del | GRCh38 |
| NC_000019.9:g.11216205_11216226del , CM000681.1:g.11216205_11216226del | GRCh37 |
| NC_000019.8:g.11077205_11077226del | NCBI36 |
| NG_009060.1:g.21149_21170del , LRG_274:g.21149_21170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.881_902del | ENSP00000252444.6:p.Glu294AlafsTer? | |
| ENST00000559340.2:c.623_644del | ENSP00000453696.2:p.Glu208AlafsTer? | |
| ENST00000560467.2:c.623_644del | ENSP00000453513.2:p.Glu208AlafsTer? | |
| ENST00000558518.6:c.623_644del MANE Select | ENSP00000454071.1:p.Glu208AlafsTer? | |
| ENST00000252444.9:c.877_898del | ||
| ENST00000455727.6:c.314-1863_314-1842del | ENSP00000397829.2:n.314-1863_314-1842del | |
| ENST00000535915.5:c.500_521del | ENSP00000440520.1:p.Glu167AlafsTer? | |
| ENST00000545707.5:c.314-1036_314-1015del | ENSP00000437639.1:n.314-1036_314-1015del | |
| ENST00000557933.5:c.623_644del | ENSP00000453557.1:p.Glu208AlafsTer? | |
| ENST00000558013.5:c.623_644del | ENSP00000453346.1:p.Glu208AlafsTer? | |
| ENST00000558518.5:c.623_644del | ENSP00000454071.1:p.Glu208AlafsTer? | |
| ENST00000560467.1:c.223_244del | ||
| NM_000527.4:c.623_644del , LRG_274t1:c.623_644del | NP_000518.1:p.Glu208AlafsTer? | |
| NM_001195798.1:c.623_644del | NP_001182727.1:p.Glu208AlafsTer? | |
| NM_001195799.1:c.500_521del | NP_001182728.1:p.Glu167AlafsTer? | |
| NM_001195800.1:c.314-1863_314-1842del | NP_001182729.1:n.314-1863_314-1842del | |
| NM_001195803.1:c.314-1036_314-1015del | NP_001182732.1:n.314-1036_314-1015del | |
| XM_011528010.1:c.623_644del | XP_011526312.1:p.Glu208AlafsTer? | |
| XM_011528011.1:c.314-1036_314-1015del | XP_011526313.1:n.314-1036_314-1015del | |
| XR_244074.2:n.773_794del | ||
| XM_011528010.2:c.623_644del | XP_011526312.1:p.Glu208AlafsTer? | |
| XR_001753685.2:n.740_761del | ||
| XR_001753686.2:n.740_761del | ||
| NM_000527.5:c.623_644del MANE Select | NP_000518.1:p.Glu208AlafsTer? | |
| NM_001195798.2:c.623_644del | NP_001182727.1:p.Glu208AlafsTer? | |
| NM_001195799.2:c.500_521del | NP_001182728.1:p.Glu167AlafsTer? | |
| NM_001195800.2:c.314-1863_314-1842del | NP_001182729.1:n.314-1863_314-1842del | |
| NM_001195803.2:c.314-1036_314-1015del | NP_001182732.1:n.314-1036_314-1015del |