Canonical Allele Identifier: CA658653711
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441209
ClinVar RCV Id: RCV000509468 RCV003302747
dbSNP Id: rs1555804545
MyVariant Identifiers: chr19:g.11221433dup (hg19) chr19:g.11110757dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110757dup , CM000681.2:g.11110757dup GRCh38
NC_000019.9:g.11221433dup , CM000681.1:g.11221433dup GRCh37
NC_000019.8:g.11082433dup NCBI36
NG_009060.1:g.26377dup , LRG_274:g.26377dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1304dup ENSP00000252444.6:p.Arg436AlafsTer8
ENST00000559340.2:c.1046dup ENSP00000453696.2:p.Arg350AlafsTer8
ENST00000560467.2:c.941-757dup ENSP00000453513.2:n.941-757dup
ENST00000558518.6:c.1046dup MANE Select ENSP00000454071.1:p.Arg350AlafsTer8
ENST00000252444.9:c.1300dup
ENST00000455727.6:c.542dup ENSP00000397829.2:p.Arg182AlafsTer8
ENST00000535915.5:c.923dup ENSP00000440520.1:p.Arg309AlafsTer8
ENST00000545707.5:c.665dup ENSP00000437639.1:p.Arg223AlafsTer8
ENST00000557933.5:c.1046dup ENSP00000453557.1:p.Arg350AlafsTer8
ENST00000558013.5:c.1046dup ENSP00000453346.1:p.Arg350AlafsTer8
ENST00000558518.5:c.1046dup ENSP00000454071.1:p.Arg350AlafsTer8
ENST00000560173.1:n.45dup
ENST00000560467.1:c.541-757dup
NM_000527.4:c.1046dup , LRG_274t1:c.1046dup NP_000518.1:p.Arg350AlafsTer8
NM_001195798.1:c.1046dup NP_001182727.1:p.Arg350AlafsTer8
NM_001195799.1:c.923dup NP_001182728.1:p.Arg309AlafsTer8
NM_001195800.1:c.542dup NP_001182729.1:p.Arg182AlafsTer8
NM_001195803.1:c.665dup NP_001182732.1:p.Arg223AlafsTer8
XM_011528010.1:c.1046dup XP_011526312.1:p.Arg350AlafsTer8
XM_011528011.1:c.665dup XP_011526313.1:p.Arg223AlafsTer8
XR_244074.2:n.1196dup
XM_011528010.2:c.1046dup XP_011526312.1:p.Arg350AlafsTer8
XR_001753685.2:n.1163dup
XR_001753686.2:n.1163dup
NM_000527.5:c.1046dup MANE Select NP_000518.1:p.Arg350AlafsTer8
NM_001195798.2:c.1046dup NP_001182727.1:p.Arg350AlafsTer8
NM_001195799.2:c.923dup NP_001182728.1:p.Arg309AlafsTer8
NM_001195800.2:c.542dup NP_001182729.1:p.Arg182AlafsTer8
NM_001195803.2:c.665dup NP_001182732.1:p.Arg223AlafsTer8
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