Linked Data
ClinVar Variation Id:
252268
ClinVar RCV Id:
RCV000237301
dbSNP Id:
rs879255172
PubMed:
PMID:20145306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123330_11123331del , CM000681.2:g.11123330_11123331del | GRCh38 |
| NC_000019.9:g.11234006_11234007del , CM000681.1:g.11234006_11234007del | GRCh37 |
| NC_000019.8:g.11095006_11095007del | NCBI36 |
| NG_009060.1:g.38950_38951del , LRG_274:g.38950_38951del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2555_2556del | ENSP00000252444.6:p.Thr852AsnfsTer15 | |
| ENST00000559340.2:c.*366_*367del | ENSP00000453696.2:n.*366_*367del | |
| ENST00000560467.2:c.2177_2178del | ENSP00000453513.2:p.Thr726AsnfsTer15 | |
| ENST00000558518.6:c.2297_2298del MANE Select | ENSP00000454071.1:p.Thr766AsnfsTer15 | |
| ENST00000252444.9:c.2551_2552del | ||
| ENST00000455727.6:c.1793_1794del | ENSP00000397829.2:p.Thr598AsnfsTer15 | |
| ENST00000535915.5:c.2174_2175del | ENSP00000440520.1:p.Thr725AsnfsTer15 | |
| ENST00000545707.5:c.1763_1764del | ENSP00000437639.1:p.Thr588AsnfsTer15 | |
| ENST00000557933.5:c.2297_2298del | ENSP00000453557.1:p.Thr766AsnfsTer15 | |
| ENST00000558013.5:c.2297_2298del | ENSP00000453346.1:p.Thr766AsnfsTer15 | |
| ENST00000558518.5:c.2297_2298del | ENSP00000454071.1:p.Thr766AsnfsTer15 | |
| NM_000527.4:c.2297_2298del , LRG_274t1:c.2297_2298del | NP_000518.1:p.Thr766AsnfsTer15 | |
| NM_001195798.1:c.2297_2298del | NP_001182727.1:p.Thr766AsnfsTer15 | |
| NM_001195799.1:c.2174_2175del | NP_001182728.1:p.Thr725AsnfsTer15 | |
| NM_001195800.1:c.1793_1794del | NP_001182729.1:p.Thr598AsnfsTer15 | |
| NM_001195803.1:c.1763_1764del | NP_001182732.1:p.Thr588AsnfsTer15 | |
| XM_011528010.1:c.2297_2298del | XP_011526312.1:p.Thr766AsnfsTer24 | |
| XM_011528011.1:c.1916_1917del | XP_011526313.1:p.Thr639AsnfsTer15 | |
| XR_244074.2:n.2307_2308del | ||
| XM_011528010.2:c.2297_2298del | XP_011526312.1:p.Thr766AsnfsTer24 | |
| XR_001753685.2:n.2631_2632del | ||
| XR_001753686.2:n.2274_2275del | ||
| NM_000527.5:c.2297_2298del MANE Select | NP_000518.1:p.Thr766AsnfsTer15 | |
| NM_001195798.2:c.2297_2298del | NP_001182727.1:p.Thr766AsnfsTer15 | |
| NM_001195799.2:c.2174_2175del | NP_001182728.1:p.Thr725AsnfsTer15 | |
| NM_001195800.2:c.1793_1794del | NP_001182729.1:p.Thr598AsnfsTer15 | |
| NM_001195803.2:c.1763_1764del | NP_001182732.1:p.Thr588AsnfsTer15 |