Linked Data
ClinVar Variation Id:
252247
ClinVar RCV Id:
RCV000237173
dbSNP Id:
rs879255155
PubMed:
PMID:20145306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123208del , CM000681.2:g.11123208del | GRCh38 |
| NC_000019.9:g.11233884del , CM000681.1:g.11233884del | GRCh37 |
| NC_000019.8:g.11094884del | NCBI36 |
| NG_009060.1:g.38828del , LRG_274:g.38828del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2433del | ENSP00000252444.6:p.Thr812ProfsTer4 | |
| ENST00000559340.2:c.*244del | ENSP00000453696.2:n.*244del | |
| ENST00000560467.2:c.2055del | ENSP00000453513.2:p.Thr686ProfsTer4 | |
| ENST00000558518.6:c.2175del MANE Select | ENSP00000454071.1:p.Thr726ProfsTer4 | |
| ENST00000252444.9:c.2429del | ||
| ENST00000455727.6:c.1671del | ENSP00000397829.2:p.Thr558ProfsTer4 | |
| ENST00000535915.5:c.2052del | ENSP00000440520.1:p.Thr685ProfsTer4 | |
| ENST00000545707.5:c.1641del | ENSP00000437639.1:p.Thr548ProfsTer4 | |
| ENST00000557933.5:c.2175del | ENSP00000453557.1:p.Thr726ProfsTer4 | |
| ENST00000558013.5:c.2175del | ENSP00000453346.1:p.Thr726ProfsTer4 | |
| ENST00000558518.5:c.2175del | ENSP00000454071.1:p.Thr726ProfsTer4 | |
| NM_000527.4:c.2175del , LRG_274t1:c.2175del | NP_000518.1:p.Thr726ProfsTer4 | |
| NM_001195798.1:c.2175del | NP_001182727.1:p.Thr726ProfsTer4 | |
| NM_001195799.1:c.2052del | NP_001182728.1:p.Thr685ProfsTer4 | |
| NM_001195800.1:c.1671del | NP_001182729.1:p.Thr558ProfsTer4 | |
| NM_001195803.1:c.1641del | NP_001182732.1:p.Thr548ProfsTer4 | |
| XM_011528010.1:c.2175del | XP_011526312.1:p.Thr726ProfsTer4 | |
| XM_011528011.1:c.1794del | XP_011526313.1:p.Thr599ProfsTer4 | |
| XR_244074.2:n.2185del | ||
| XM_011528010.2:c.2175del | XP_011526312.1:p.Thr726ProfsTer4 | |
| XR_001753685.2:n.2509del | ||
| XR_001753686.2:n.2152del | ||
| NM_000527.5:c.2175del MANE Select | NP_000518.1:p.Thr726ProfsTer4 | |
| NM_001195798.2:c.2175del | NP_001182727.1:p.Thr726ProfsTer4 | |
| NM_001195799.2:c.2052del | NP_001182728.1:p.Thr685ProfsTer4 | |
| NM_001195800.2:c.1671del | NP_001182729.1:p.Thr558ProfsTer4 | |
| NM_001195803.2:c.1641del | NP_001182732.1:p.Thr548ProfsTer4 |