Linked Data
ClinVar Variation Id:
90784
ClinVar RCV Id:
RCV000076283
dbSNP Id:
rs63750113
PubMed:
PMID:15849733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475044_47475047del , CM000664.2:g.47475044_47475047del | GRCh38 |
| NC_000002.11:g.47702183_47702186del , CM000664.1:g.47702183_47702186del | GRCh37 |
| NC_000002.10:g.47555687_47555690del | NCBI36 |
| NG_007110.2:g.76921_76924del , LRG_218:g.76921_76924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1779_1782del | ENSP00000495641.2:p.Gln593HisfsTer6 | |
| ENST00000233146.7:c.1779_1782del MANE Select | ENSP00000233146.2:p.Gln593HisfsTer6 | |
| ENST00000543555.6:c.1581_1584del | ENSP00000442697.1:p.Gln527HisfsTer6 | |
| ENST00000644092.1:c.*79_*82del | ENSP00000496351.1:n.*79_*82del | |
| ENST00000645339.1:c.1779_1782del | ENSP00000496441.1:p.Gln593HisfsTer6 | |
| ENST00000645506.1:c.1779_1782del | ENSP00000495455.1:p.Gln593HisfsTer6 | |
| ENST00000646415.1:c.1779_1782del | ENSP00000495543.1:p.Gln593HisfsTer6 | |
| ENST00000233146.6:c.1779_1782del | ENSP00000233146.2:p.Gln593HisfsTer6 | |
| ENST00000406134.5:c.1779_1782del | ENSP00000384199.1:p.Gln593HisfsTer6 | |
| ENST00000543555.5:c.1581_1584del | ENSP00000442697.1:p.Gln527HisfsTer6 | |
| ENST00000610696.4:c.*175_*178del | ENSP00000483159.1:n.*175_*178del | |
| ENST00000613514.4:c.*319_*322del | ENSP00000484137.1:n.*319_*322del | |
| ENST00000617333.3:c.*545_*548del | ENSP00000482468.1:n.*545_*548del | |
| ENST00000617938.4:c.*751_*754del | ENSP00000481158.1:n.*751_*754del | |
| ENST00000621359.2:c.1779_1782del | ENSP00000481416.1:p.Gln593HisfsTer6 | |
| NM_000251.2:c.1779_1782del , LRG_218t1:c.1779_1782del | NP_000242.1:p.Gln593HisfsTer6 | |
| NM_001258281.1:c.1581_1584del | NP_001245210.1:p.Gln527HisfsTer6 | |
| XM_005264332.2:c.1779_1782del | XP_005264389.2:p.Gln593HisfsTer6 | |
| XM_011532867.1:c.1779_1782del | XP_011531169.1:p.Gln593HisfsTer6 | |
| XR_939685.1:n.1851_1854del | ||
| XM_005264332.4:c.1779_1782del | XP_005264389.2:p.Gln593HisfsTer6 | |
| XM_011532867.2:c.1779_1782del | XP_011531169.1:p.Gln593HisfsTer6 | |
| XR_001738747.2:n.1841_1844del | ||
| XR_939685.2:n.1841_1844del | ||
| NM_000251.3:c.1779_1782del MANE Select | NP_000242.1:p.Gln593HisfsTer6 |