Canonical Allele Identifier: CA2573156040

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1423897
• ClinVar RCV Id: RCV001929168
• dbSNP Id: rs2147272964

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123226dup , CM000681.2:g.11123226dup	GRCh38
NC_000019.9:g.11233902dup , CM000681.1:g.11233902dup	GRCh37
NC_000019.8:g.11094902dup	NCBI36
NG_009060.1:g.38846dup , LRG_274:g.38846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2451dup	ENSP00000252444.6:p.Ser818GlnfsTer?
ENST00000559340.2:c.*262dup	ENSP00000453696.2:n.*262dup
ENST00000560467.2:c.2073dup	ENSP00000453513.2:p.Ser692GlnfsTer?
ENST00000558518.6:c.2193dup MANE Select	ENSP00000454071.1:p.Ser732GlnfsTer?
ENST00000252444.9:c.2447dup
ENST00000455727.6:c.1689dup	ENSP00000397829.2:p.Ser564GlnfsTer?
ENST00000535915.5:c.2070dup	ENSP00000440520.1:p.Ser691GlnfsTer?
ENST00000545707.5:c.1659dup	ENSP00000437639.1:p.Ser554GlnfsTer?
ENST00000557933.5:c.2193dup	ENSP00000453557.1:p.Ser732GlnfsTer?
ENST00000558013.5:c.2193dup	ENSP00000453346.1:p.Ser732GlnfsTer?
ENST00000558518.5:c.2193dup	ENSP00000454071.1:p.Ser732GlnfsTer?
NM_000527.4:c.2193dup , LRG_274t1:c.2193dup	NP_000518.1:p.Ser732GlnfsTer?
NM_001195798.1:c.2193dup	NP_001182727.1:p.Ser732GlnfsTer?
NM_001195799.1:c.2070dup	NP_001182728.1:p.Ser691GlnfsTer?
NM_001195800.1:c.1689dup	NP_001182729.1:p.Ser564GlnfsTer?
NM_001195803.1:c.1659dup	NP_001182732.1:p.Ser554GlnfsTer?
XM_011528010.1:c.2193dup	XP_011526312.1:p.Ser732GlnfsTer?
XM_011528011.1:c.1812dup	XP_011526313.1:p.Ser605GlnfsTer?
XR_244074.2:n.2203dup
XM_011528010.2:c.2193dup	XP_011526312.1:p.Ser732GlnfsTer?
XR_001753685.2:n.2527dup
XR_001753686.2:n.2170dup
NM_000527.5:c.2193dup MANE Select	NP_000518.1:p.Ser732GlnfsTer?
NM_001195798.2:c.2193dup	NP_001182727.1:p.Ser732GlnfsTer?
NM_001195799.2:c.2070dup	NP_001182728.1:p.Ser691GlnfsTer?
NM_001195800.2:c.1689dup	NP_001182729.1:p.Ser564GlnfsTer?
NM_001195803.2:c.1659dup	NP_001182732.1:p.Ser554GlnfsTer?