Canonical Allele Identifier: CA10585807

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252256
• ClinVar RCV Id: RCV000237894 ; RCV003298318
• dbSNP Id: rs879255164
• gnomAD v2: 19-11233915-G-GT
• gnomAD v4: 19-11123239-G-GT
• MyVariant Identifiers: chr19:g.11233916dupT (hg19) ; chr19:g.11233915_11233916insT (hg19) ; chr19:g.11123240dupT (hg38)
• PubMed: PMID:10790219

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123240dup , CM000681.2:g.11123240dup	GRCh38
NC_000019.9:g.11233916dup , CM000681.1:g.11233916dup	GRCh37
NC_000019.8:g.11094916dup	NCBI36
NG_009060.1:g.38860dup , LRG_274:g.38860dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2465dup	ENSP00000252444.6:p.Arg823LysfsTer?
ENST00000559340.2:c.*276dup	ENSP00000453696.2:n.*276dup
ENST00000560467.2:c.2087dup	ENSP00000453513.2:p.Arg697LysfsTer?
ENST00000558518.6:c.2207dup MANE Select	ENSP00000454071.1:p.Arg737LysfsTer?
ENST00000252444.9:c.2461dup
ENST00000455727.6:c.1703dup	ENSP00000397829.2:p.Arg569LysfsTer?
ENST00000535915.5:c.2084dup	ENSP00000440520.1:p.Arg696LysfsTer?
ENST00000545707.5:c.1673dup	ENSP00000437639.1:p.Arg559LysfsTer?
ENST00000557933.5:c.2207dup	ENSP00000453557.1:p.Arg737LysfsTer?
ENST00000558013.5:c.2207dup	ENSP00000453346.1:p.Arg737LysfsTer?
ENST00000558518.5:c.2207dup	ENSP00000454071.1:p.Arg737LysfsTer?
NM_000527.4:c.2207dup , LRG_274t1:c.2207dup	NP_000518.1:p.Arg737LysfsTer?
NM_001195798.1:c.2207dup	NP_001182727.1:p.Arg737LysfsTer?
NM_001195799.1:c.2084dup	NP_001182728.1:p.Arg696LysfsTer?
NM_001195800.1:c.1703dup	NP_001182729.1:p.Arg569LysfsTer?
NM_001195803.1:c.1673dup	NP_001182732.1:p.Arg559LysfsTer?
XM_011528010.1:c.2207dup	XP_011526312.1:p.Arg737LysfsTer?
XM_011528011.1:c.1826dup	XP_011526313.1:p.Arg610LysfsTer?
XR_244074.2:n.2217dup
XM_011528010.2:c.2207dup	XP_011526312.1:p.Arg737LysfsTer?
XR_001753685.2:n.2541dup
XR_001753686.2:n.2184dup
NM_000527.5:c.2207dup MANE Select	NP_000518.1:p.Arg737LysfsTer?
NM_001195798.2:c.2207dup	NP_001182727.1:p.Arg737LysfsTer?
NM_001195799.2:c.2084dup	NP_001182728.1:p.Arg696LysfsTer?
NM_001195800.2:c.1703dup	NP_001182729.1:p.Arg569LysfsTer?
NM_001195803.2:c.1673dup	NP_001182732.1:p.Arg559LysfsTer?