Linked Data
ClinVar Variation Id:
252286
ClinVar RCV Id:
RCV000238273
dbSNP Id:
rs879255178
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128014del , CM000681.2:g.11128014del | GRCh38 |
| NC_000019.9:g.11238690del , CM000681.1:g.11238690del | GRCh37 |
| NC_000019.8:g.11099690del | NCBI36 |
| NG_009060.1:g.43634del , LRG_274:g.43634del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2576del | ENSP00000252444.6:p.Gly859AlafsTer15 | |
| ENST00000559340.2:c.*387del | ENSP00000453696.2:n.*387del | |
| ENST00000560467.2:c.2198del | ENSP00000453513.2:p.Gly733AlafsTer15 | |
| ENST00000558518.6:c.2318del MANE Select | ENSP00000454071.1:p.Gly773AlafsTer15 | |
| ENST00000252444.9:c.2572del | ||
| ENST00000455727.6:c.1814del | ENSP00000397829.2:p.Gly605AlafsTer15 | |
| ENST00000535915.5:c.2195del | ENSP00000440520.1:p.Gly732AlafsTer15 | |
| ENST00000545707.5:c.1784del | ENSP00000437639.1:p.Gly595AlafsTer15 | |
| ENST00000557933.5:c.2318del | ENSP00000453557.1:p.Gly773AlafsTer15 | |
| ENST00000558013.5:c.2318del | ENSP00000453346.1:p.Gly773AlafsTer15 | |
| ENST00000558518.5:c.2318del | ENSP00000454071.1:p.Gly773AlafsTer15 | |
| ENST00000560628.1:n.108+360del | ||
| NM_000527.4:c.2318del , LRG_274t1:c.2318del | NP_000518.1:p.Gly773AlafsTer15 | |
| NM_001195798.1:c.2318del | NP_001182727.1:p.Gly773AlafsTer15 | |
| NM_001195799.1:c.2195del | NP_001182728.1:p.Gly732AlafsTer15 | |
| NM_001195800.1:c.1814del | NP_001182729.1:p.Gly605AlafsTer15 | |
| NM_001195803.1:c.1784del | NP_001182732.1:p.Gly595AlafsTer15 | |
| XM_011528010.1:c.2312-1499del | XP_011526312.1:n.2312-1499del | |
| XM_011528011.1:c.1937del | XP_011526313.1:p.Gly646AlafsTer15 | |
| XR_244074.2:n.2328del | ||
| XM_011528010.2:c.2312-1499del | XP_011526312.1:n.2312-1499del | |
| XR_001753685.2:n.2652del | ||
| XR_001753686.2:n.2295del | ||
| NM_000527.5:c.2318del MANE Select | NP_000518.1:p.Gly773AlafsTer15 | |
| NM_001195798.2:c.2318del | NP_001182727.1:p.Gly773AlafsTer15 | |
| NM_001195799.2:c.2195del | NP_001182728.1:p.Gly732AlafsTer15 | |
| NM_001195800.2:c.1814del | NP_001182729.1:p.Gly605AlafsTer15 | |
| NM_001195803.2:c.1784del | NP_001182732.1:p.Gly595AlafsTer15 |