Linked Data
ClinVar Variation Id:
252062
ClinVar RCV Id:
RCV000237655
dbSNP Id:
rs879255044
PubMed:
PMID:11851376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116994_11116995del , CM000681.2:g.11116994_11116995del | GRCh38 |
| NC_000019.9:g.11227670_11227671del , CM000681.1:g.11227670_11227671del | GRCh37 |
| NC_000019.8:g.11088670_11088671del | NCBI36 |
| NG_009060.1:g.32614_32615del , LRG_274:g.32614_32615del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2099_2100del | ENSP00000252444.6:p.Phe700Ter | |
| ENST00000559340.2:c.1705+782_1705+783del | ENSP00000453696.2:n.1705+782_1705+783del | |
| ENST00000560467.2:c.1721_1722del | ENSP00000453513.2:p.Phe574Ter | |
| ENST00000558518.6:c.1841_1842del MANE Select | ENSP00000454071.1:p.Phe614Ter | |
| ENST00000252444.9:c.2095_2096del | ||
| ENST00000455727.6:c.1337_1338del | ENSP00000397829.2:p.Phe446Ter | |
| ENST00000535915.5:c.1718_1719del | ENSP00000440520.1:p.Phe573Ter | |
| ENST00000545707.5:c.1460_1461del | ENSP00000437639.1:p.Phe487Ter | |
| ENST00000557933.5:c.1841_1842del | ENSP00000453557.1:p.Phe614Ter | |
| ENST00000558013.5:c.1841_1842del | ENSP00000453346.1:p.Phe614Ter | |
| ENST00000558518.5:c.1841_1842del | ENSP00000454071.1:p.Phe614Ter | |
| ENST00000559340.1:c.426+782_426+783del | ||
| NM_000527.4:c.1841_1842del , LRG_274t1:c.1841_1842del | NP_000518.1:p.Phe614Ter | |
| NM_001195798.1:c.1841_1842del | NP_001182727.1:p.Phe614Ter | |
| NM_001195799.1:c.1718_1719del | NP_001182728.1:p.Phe573Ter | |
| NM_001195800.1:c.1337_1338del | NP_001182729.1:p.Phe446Ter | |
| NM_001195803.1:c.1460_1461del | NP_001182732.1:p.Phe487Ter | |
| XM_011528010.1:c.1841_1842del | XP_011526312.1:p.Phe614Ter | |
| XM_011528011.1:c.1460_1461del | XP_011526313.1:p.Phe487Ter | |
| XR_244074.2:n.1855+782_1855+783del | ||
| XM_011528010.2:c.1841_1842del | XP_011526312.1:p.Phe614Ter | |
| XR_001753685.2:n.1958_1959del | ||
| XR_001753686.2:n.1822+782_1822+783del | ||
| NM_000527.5:c.1841_1842del MANE Select | NP_000518.1:p.Phe614Ter | |
| NM_001195798.2:c.1841_1842del | NP_001182727.1:p.Phe614Ter | |
| NM_001195799.2:c.1718_1719del | NP_001182728.1:p.Phe573Ter | |
| NM_001195800.2:c.1337_1338del | NP_001182729.1:p.Phe446Ter | |
| NM_001195803.2:c.1460_1461del | NP_001182732.1:p.Phe487Ter |