Canonical Allele Identifier: CA645509280
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440640
ClinVar RCV Id: RCV000508848 RCV003581676 RCV003352899
dbSNP Id: rs1555805360
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113589_11113590delinsGGACAT , CM000681.2:g.11113589_11113590delinsGGACAT GRCh38
NC_000019.9:g.11224265_11224266delinsGGACAT , CM000681.1:g.11224265_11224266delinsGGACAT GRCh37
NC_000019.8:g.11085265_11085266delinsGGACAT NCBI36
NG_009060.1:g.29209_29210delinsGGACAT , LRG_274:g.29209_29210delinsGGACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1671_1672delinsGGACAT ENSP00000252444.6:p.Gln560HisfsTer?
ENST00000559340.2:c.1413_1414delinsGGACAT ENSP00000453696.2:p.Gln474HisfsTer?
ENST00000560467.2:c.1293_1294delinsGGACAT ENSP00000453513.2:p.Gln434HisfsTer?
ENST00000558518.6:c.1413_1414delinsGGACAT MANE Select ENSP00000454071.1:p.Gln474HisfsTer?
ENST00000252444.9:c.1667_1668delinsGGACAT
ENST00000455727.6:c.909_910delinsGGACAT ENSP00000397829.2:p.Gln306HisfsTer?
ENST00000535915.5:c.1290_1291delinsGGACAT ENSP00000440520.1:p.Gln433HisfsTer?
ENST00000545707.5:c.1032_1033delinsGGACAT ENSP00000437639.1:p.Gln347HisfsTer?
ENST00000557933.5:c.1413_1414delinsGGACAT ENSP00000453557.1:p.Gln474HisfsTer?
ENST00000558013.5:c.1413_1414delinsGGACAT ENSP00000453346.1:p.Gln474HisfsTer?
ENST00000558518.5:c.1413_1414delinsGGACAT ENSP00000454071.1:p.Gln474HisfsTer?
ENST00000559340.1:c.134_135delinsGGACAT
ENST00000560467.1:c.893_894delinsGGACAT
NM_000527.4:c.1413_1414delinsGGACAT , LRG_274t1:c.1413_1414delinsGGACAT NP_000518.1:p.Gln474HisfsTer?
NM_001195798.1:c.1413_1414delinsGGACAT NP_001182727.1:p.Gln474HisfsTer?
NM_001195799.1:c.1290_1291delinsGGACAT NP_001182728.1:p.Gln433HisfsTer?
NM_001195800.1:c.909_910delinsGGACAT NP_001182729.1:p.Gln306HisfsTer?
NM_001195803.1:c.1032_1033delinsGGACAT NP_001182732.1:p.Gln347HisfsTer?
XM_011528010.1:c.1413_1414delinsGGACAT XP_011526312.1:p.Gln474HisfsTer?
XM_011528011.1:c.1032_1033delinsGGACAT XP_011526313.1:p.Gln347HisfsTer?
XR_244074.2:n.1563_1564delinsGGACAT
XM_011528010.2:c.1413_1414delinsGGACAT XP_011526312.1:p.Gln474HisfsTer?
XR_001753685.2:n.1530_1531delinsGGACAT
XR_001753686.2:n.1530_1531delinsGGACAT
NM_000527.5:c.1413_1414delinsGGACAT MANE Select NP_000518.1:p.Gln474HisfsTer?
NM_001195798.2:c.1413_1414delinsGGACAT NP_001182727.1:p.Gln474HisfsTer?
NM_001195799.2:c.1290_1291delinsGGACAT NP_001182728.1:p.Gln433HisfsTer?
NM_001195800.2:c.909_910delinsGGACAT NP_001182729.1:p.Gln306HisfsTer?
NM_001195803.2:c.1032_1033delinsGGACAT NP_001182732.1:p.Gln347HisfsTer?
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