Canonical Allele Identifier: CA2697556242

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2772644
• ClinVar RCV Id: RCV003582077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123263dup , CM000681.2:g.11123263dup	GRCh38
NC_000019.9:g.11233939dup , CM000681.1:g.11233939dup	GRCh37
NC_000019.8:g.11094939dup	NCBI36
NG_009060.1:g.38883dup , LRG_274:g.38883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2488dup	ENSP00000252444.6:p.Arg830ProfsTer?
ENST00000559340.2:c.*299dup	ENSP00000453696.2:n.*299dup
ENST00000560467.2:c.2110dup	ENSP00000453513.2:p.Arg704ProfsTer?
ENST00000558518.6:c.2230dup MANE Select	ENSP00000454071.1:p.Arg744ProfsTer?
ENST00000252444.9:c.2484dup
ENST00000455727.6:c.1726dup	ENSP00000397829.2:p.Arg576ProfsTer?
ENST00000535915.5:c.2107dup	ENSP00000440520.1:p.Arg703ProfsTer?
ENST00000545707.5:c.1696dup	ENSP00000437639.1:p.Arg566ProfsTer?
ENST00000557933.5:c.2230dup	ENSP00000453557.1:p.Arg744ProfsTer?
ENST00000558013.5:c.2230dup	ENSP00000453346.1:p.Arg744ProfsTer?
ENST00000558518.5:c.2230dup	ENSP00000454071.1:p.Arg744ProfsTer?
NM_000527.4:c.2230dup , LRG_274t1:c.2230dup	NP_000518.1:p.Arg744ProfsTer?
NM_001195798.1:c.2230dup	NP_001182727.1:p.Arg744ProfsTer?
NM_001195799.1:c.2107dup	NP_001182728.1:p.Arg703ProfsTer?
NM_001195800.1:c.1726dup	NP_001182729.1:p.Arg576ProfsTer?
NM_001195803.1:c.1696dup	NP_001182732.1:p.Arg566ProfsTer?
XM_011528010.1:c.2230dup	XP_011526312.1:p.Arg744ProfsTer?
XM_011528011.1:c.1849dup	XP_011526313.1:p.Arg617ProfsTer?
XR_244074.2:n.2240dup
XM_011528010.2:c.2230dup	XP_011526312.1:p.Arg744ProfsTer?
XR_001753685.2:n.2564dup
XR_001753686.2:n.2207dup
NM_000527.5:c.2230dup MANE Select	NP_000518.1:p.Arg744ProfsTer?
NM_001195798.2:c.2230dup	NP_001182727.1:p.Arg744ProfsTer?
NM_001195799.2:c.2107dup	NP_001182728.1:p.Arg703ProfsTer?
NM_001195800.2:c.1726dup	NP_001182729.1:p.Arg576ProfsTer?
NM_001195803.2:c.1696dup	NP_001182732.1:p.Arg566ProfsTer?