Canonical Allele Identifier: CA645509282

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440651
• ClinVar RCV Id: RCV000508732
• dbSNP Id: rs1555805531
• MyVariant Identifiers: chr19:g.11224423_11224441dup (hg19) ; chr19:g.11113747_11113765dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113747_11113765dup , CM000681.2:g.11113747_11113765dup	GRCh38
NC_000019.9:g.11224423_11224441dup , CM000681.1:g.11224423_11224441dup	GRCh37
NC_000019.8:g.11085423_11085441dup	NCBI36
NG_009060.1:g.29367_29385dup , LRG_274:g.29367_29385dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1829_1844+3dup
ENST00000559340.2:c.1571_1586+3dup
ENST00000560467.2:c.1451_1466+3dup
ENST00000558518.6:c.1571_1586+3dup
ENST00000252444.9:c.1825_1840+3dup
ENST00000455727.6:c.1067_1082+3dup
ENST00000535915.5:c.1448_1463+3dup
ENST00000545707.5:c.1190_1205+3dup
ENST00000557933.5:c.1571_1586+3dup
ENST00000558013.5:c.1571_1586+3dup
ENST00000558518.5:c.1571_1586+3dup
ENST00000559340.1:c.292_307+3dup
NM_000527.4:c.1571_1586+3dup , LRG_274t1:c.1571_1586+3dup
NM_001195798.1:c.1571_1586+3dup
NM_001195799.1:c.1448_1463+3dup
NM_001195800.1:c.1067_1082+3dup
NM_001195803.1:c.1190_1205+3dup
XM_011528010.1:c.1571_1586+3dup
XM_011528011.1:c.1190_1205+3dup
XR_244074.2:n.1721_1736+3dup
XM_011528010.2:c.1571_1586+3dup
XR_001753685.2:n.1688_1703+3dup
XR_001753686.2:n.1688_1703+3dup
NM_000527.5:c.1571_1586+3dup
NM_001195798.2:c.1571_1586+3dup
NM_001195799.2:c.1448_1463+3dup
NM_001195800.2:c.1067_1082+3dup
NM_001195803.2:c.1190_1205+3dup