Linked Data
ClinVar Variation Id:
252057
ClinVar RCV Id:
RCV000238494
dbSNP Id:
rs879255040
PubMed:
PMID:26020417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116986_11116994del , CM000681.2:g.11116986_11116994del | GRCh38 |
| NC_000019.9:g.11227662_11227670del , CM000681.1:g.11227662_11227670del | GRCh37 |
| NC_000019.8:g.11088662_11088670del | NCBI36 |
| NG_009060.1:g.32606_32614del , LRG_274:g.32606_32614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2091_2099del | ENSP00000252444.6:p.Leu697_Val699del | |
| ENST00000559340.2:c.1705+774_1705+782del | ENSP00000453696.2:n.1705+774_1705+782del | |
| ENST00000560467.2:c.1713_1721del | ENSP00000453513.2:p.Leu571_Val573del | |
| ENST00000558518.6:c.1833_1841del MANE Select | ENSP00000454071.1:p.Leu611_Val613del | |
| ENST00000252444.9:c.2087_2095del | ||
| ENST00000455727.6:c.1329_1337del | ENSP00000397829.2:p.Leu443_Val445del | |
| ENST00000535915.5:c.1710_1718del | ENSP00000440520.1:p.Leu570_Val572del | |
| ENST00000545707.5:c.1452_1460del | ENSP00000437639.1:p.Leu484_Val486del | |
| ENST00000557933.5:c.1833_1841del | ENSP00000453557.1:p.Leu611_Val613del | |
| ENST00000558013.5:c.1833_1841del | ENSP00000453346.1:p.Leu611_Val613del | |
| ENST00000558518.5:c.1833_1841del | ENSP00000454071.1:p.Leu611_Val613del | |
| ENST00000559340.1:c.426+774_426+782del | ||
| NM_000527.4:c.1833_1841del , LRG_274t1:c.1833_1841del | NP_000518.1:p.Leu611_Val613del | |
| NM_001195798.1:c.1833_1841del | NP_001182727.1:p.Leu611_Val613del | |
| NM_001195799.1:c.1710_1718del | NP_001182728.1:p.Leu570_Val572del | |
| NM_001195800.1:c.1329_1337del | NP_001182729.1:p.Leu443_Val445del | |
| NM_001195803.1:c.1452_1460del | NP_001182732.1:p.Leu484_Val486del | |
| XM_011528010.1:c.1833_1841del | XP_011526312.1:p.Leu611_Val613del | |
| XM_011528011.1:c.1452_1460del | XP_011526313.1:p.Leu484_Val486del | |
| XR_244074.2:n.1855+774_1855+782del | ||
| XM_011528010.2:c.1833_1841del | XP_011526312.1:p.Leu611_Val613del | |
| XR_001753685.2:n.1950_1958del | ||
| XR_001753686.2:n.1822+774_1822+782del | ||
| NM_000527.5:c.1833_1841del MANE Select | NP_000518.1:p.Leu611_Val613del | |
| NM_001195798.2:c.1833_1841del | NP_001182727.1:p.Leu611_Val613del | |
| NM_001195799.2:c.1710_1718del | NP_001182728.1:p.Leu570_Val572del | |
| NM_001195800.2:c.1329_1337del | NP_001182729.1:p.Leu443_Val445del | |
| NM_001195803.2:c.1452_1460del | NP_001182732.1:p.Leu484_Val486del |