Canonical Allele Identifier: CA2741611832

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105218_11105223dup , CM000681.2:g.11105218_11105223dup	GRCh38
NC_000019.9:g.11215894_11215899dup , CM000681.1:g.11215894_11215899dup	GRCh37
NC_000019.8:g.11076894_11076899dup	NCBI36
NG_009060.1:g.20838_20843dup , LRG_274:g.20838_20843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.572-2_575dup
ENST00000559340.2:c.314-2_317dup
ENST00000560467.2:c.314-2_317dup
ENST00000558518.6:c.314-2_317dup
ENST00000252444.9:c.568-2_571dup
ENST00000455727.6:c.314-2174_314-2169dup	ENSP00000397829.2:n.314-2174_314-2169dup
ENST00000535915.5:c.191-2_194dup
ENST00000545707.5:c.314-1347_314-1342dup	ENSP00000437639.1:n.314-1347_314-1342dup
ENST00000557933.5:c.314-2_317dup
ENST00000558013.5:c.314-2_317dup
ENST00000558518.5:c.314-2_317dup
NM_000527.4:c.314-2_317dup , LRG_274t1:c.314-2_317dup
NM_001195798.1:c.314-2_317dup
NM_001195799.1:c.191-2_194dup
NM_001195800.1:c.314-2174_314-2169dup	NP_001182729.1:n.314-2174_314-2169dup
NM_001195803.1:c.314-1347_314-1342dup	NP_001182732.1:n.314-1347_314-1342dup
XM_011528010.1:c.314-2_317dup
XM_011528011.1:c.314-1347_314-1342dup	XP_011526313.1:n.314-1347_314-1342dup
XR_244074.2:n.464-2_467dup
XM_011528010.2:c.314-2_317dup
XR_001753685.2:n.431-2_434dup
XR_001753686.2:n.431-2_434dup
NM_000527.5:c.314-2_317dup
NM_001195798.2:c.314-2_317dup
NM_001195799.2:c.191-2_194dup
NM_001195800.2:c.314-2174_314-2169dup	NP_001182729.1:n.314-2174_314-2169dup
NM_001195803.2:c.314-1347_314-1342dup	NP_001182732.1:n.314-1347_314-1342dup