Canonical Allele Identifier: CA16602337
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375823
ClinVar RCV Id: RCV000417277
dbSNP Id: rs1057519676
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116926_11116927delinsT , CM000681.2:g.11116926_11116927delinsT GRCh38
NC_000019.9:g.11227602_11227603delinsT , CM000681.1:g.11227602_11227603delinsT GRCh37
NC_000019.8:g.11088602_11088603delinsT NCBI36
NG_009060.1:g.32546_32547delinsT , LRG_274:g.32546_32547delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2031_2032delinsT ENSP00000252444.6:p.Gly679AlafsTer?
ENST00000559340.2:c.1705+714_1705+715delinsT ENSP00000453696.2:n.1705+714_1705+715deli...
ENST00000560467.2:c.1653_1654delinsT ENSP00000453513.2:p.Gly553AlafsTer?
ENST00000558518.6:c.1773_1774delinsT MANE Select ENSP00000454071.1:p.Gly593AlafsTer?
ENST00000252444.9:c.2027_2028delinsT
ENST00000455727.6:c.1269_1270delinsT ENSP00000397829.2:p.Gly425AlafsTer?
ENST00000535915.5:c.1650_1651delinsT ENSP00000440520.1:p.Gly552AlafsTer?
ENST00000545707.5:c.1392_1393delinsT ENSP00000437639.1:p.Gly466AlafsTer?
ENST00000557933.5:c.1773_1774delinsT ENSP00000453557.1:p.Gly593AlafsTer?
ENST00000558013.5:c.1773_1774delinsT ENSP00000453346.1:p.Gly593AlafsTer?
ENST00000558518.5:c.1773_1774delinsT ENSP00000454071.1:p.Gly593AlafsTer?
ENST00000559340.1:c.426+714_426+715delinsT
NM_000527.4:c.1773_1774delinsT , LRG_274t1:c.1773_1774delinsT NP_000518.1:p.Gly593AlafsTer?
NM_001195798.1:c.1773_1774delinsT NP_001182727.1:p.Gly593AlafsTer?
NM_001195799.1:c.1650_1651delinsT NP_001182728.1:p.Gly552AlafsTer?
NM_001195800.1:c.1269_1270delinsT NP_001182729.1:p.Gly425AlafsTer?
NM_001195803.1:c.1392_1393delinsT NP_001182732.1:p.Gly466AlafsTer?
XM_011528010.1:c.1773_1774delinsT XP_011526312.1:p.Gly593AlafsTer?
XM_011528011.1:c.1392_1393delinsT XP_011526313.1:p.Gly466AlafsTer?
XR_244074.2:n.1855+714_1855+715delinsT
XM_011528010.2:c.1773_1774delinsT XP_011526312.1:p.Gly593AlafsTer?
XR_001753685.2:n.1890_1891delinsT
XR_001753686.2:n.1822+714_1822+715delinsT
NM_000527.5:c.1773_1774delinsT MANE Select NP_000518.1:p.Gly593AlafsTer?
NM_001195798.2:c.1773_1774delinsT NP_001182727.1:p.Gly593AlafsTer?
NM_001195799.2:c.1650_1651delinsT NP_001182728.1:p.Gly552AlafsTer?
NM_001195800.2:c.1269_1270delinsT NP_001182729.1:p.Gly425AlafsTer?
NM_001195803.2:c.1392_1393delinsT NP_001182732.1:p.Gly466AlafsTer?
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