Canonical Allele Identifier: CA658824572

Gene: LDLR

Linked Data

• ClinVar Variation Id: 548099
• ClinVar RCV Id: RCV000660738

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116093_11116999dup , CM000681.2:g.11116093_11116999dup	GRCh38
NC_000019.9:g.11226769_11227675dup , CM000681.1:g.11226769_11227675dup	GRCh37
NC_000019.8:g.11087769_11088675dup	NCBI36
NG_009060.1:g.31713_32619dup , LRG_274:g.31713_32619dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1845-1_2103+1dup
ENST00000559340.2:c.1587-1_1705+787dup
ENST00000560467.2:c.1467-1_1725+1dup
ENST00000558518.6:c.1587-1_1845+1dup
ENST00000252444.9:c.1841-1_2099+1dup
ENST00000455727.6:c.1083-1_1341+1dup
ENST00000535915.5:c.1464-1_1722+1dup
ENST00000545707.5:c.1206-1_1464+1dup
ENST00000557933.5:c.1587-1_1845+1dup
ENST00000558013.5:c.1587-1_1845+1dup
ENST00000558518.5:c.1587-1_1845+1dup
ENST00000559340.1:c.308-1_426+787dup
NM_000527.4:c.1587-1_1845+1dup , LRG_274t1:c.1587-1_1845+1dup
NM_001195798.1:c.1587-1_1845+1dup
NM_001195799.1:c.1464-1_1722+1dup
NM_001195800.1:c.1083-1_1341+1dup
NM_001195803.1:c.1206-1_1464+1dup
XM_011528010.1:c.1587-1_1845+1dup
XM_011528011.1:c.1206-1_1464+1dup
XR_244074.2:n.1737-1_1855+787dup
XM_011528010.2:c.1587-1_1845+1dup
XR_001753685.2:n.1704-1_1962+1dup
XR_001753686.2:n.1704-1_1822+787dup
NM_000527.5:c.1587-1_1845+1dup
NM_001195798.2:c.1587-1_1845+1dup
NM_001195799.2:c.1464-1_1722+1dup
NM_001195800.2:c.1083-1_1341+1dup
NM_001195803.2:c.1206-1_1464+1dup