Canonical Allele Identifier: CA2739276500

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2847986
• ClinVar RCV Id: RCV003742137

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113694_11114102del , CM000681.2:g.11113694_11114102del	GRCh38
NC_000019.9:g.11224370_11224778del , CM000681.1:g.11224370_11224778del	GRCh37
NC_000019.8:g.11085370_11085778del	NCBI36
NG_009060.1:g.29314_29722del , LRG_274:g.29314_29722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1776_1844+340del
ENST00000559340.2:c.1518_1586+340del
ENST00000560467.2:c.1398_1466+340del
ENST00000558518.6:c.1518_1586+340del
ENST00000252444.9:c.1772_1840+340del
ENST00000455727.6:c.1014_1082+340del
ENST00000535915.5:c.1395_1463+340del
ENST00000545707.5:c.1137_1205+340del
ENST00000557933.5:c.1518_1586+340del
ENST00000558013.5:c.1518_1586+340del
ENST00000558518.5:c.1518_1586+340del
ENST00000559340.1:c.239_307+340del
NM_000527.4:c.1518_1586+340del , LRG_274t1:c.1518_1586+340del
NM_001195798.1:c.1518_1586+340del
NM_001195799.1:c.1395_1463+340del
NM_001195800.1:c.1014_1082+340del
NM_001195803.1:c.1137_1205+340del
XM_011528010.1:c.1518_1586+340del
XM_011528011.1:c.1137_1205+340del
XR_244074.2:n.1668_1736+340del
XM_011528010.2:c.1518_1586+340del
XR_001753685.2:n.1635_1703+340del
XR_001753686.2:n.1635_1703+340del
NM_000527.5:c.1518_1586+340del
NM_001195798.2:c.1518_1586+340del
NM_001195799.2:c.1395_1463+340del
NM_001195800.2:c.1014_1082+340del
NM_001195803.2:c.1137_1205+340del