Canonical Allele Identifier: CA3260672794

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111640_11116093dup , CM000681.2:g.11111640_11116093dup	GRCh38
NC_000019.9:g.11222316_11226769dup , CM000681.1:g.11222316_11226769dup	GRCh37
NC_000019.8:g.11083316_11087769dup	NCBI36
NG_009060.1:g.27260_31713dup , LRG_274:g.27260_31713dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1186+1_1587-1dup , LRG_274t1:c.1186+1_1587-1dup
NM_000527.5:c.1186+1_1587-1dup
NM_001195798.1:c.1186+1_1587-1dup
NM_001195798.2:c.1186+1_1587-1dup
NM_001195799.1:c.1063+1_1464-1dup
NM_001195799.2:c.1063+1_1464-1dup
NM_001195800.1:c.682+1_1083-1dup
NM_001195800.2:c.682+1_1083-1dup
NM_001195803.1:c.805+1_1206-1dup
NM_001195803.2:c.805+1_1206-1dup
ENST00000252444.10:c.1444+1_1845-1dup
ENST00000252444.9:c.1440+1_1841-1dup
ENST00000455727.6:c.682+1_1083-1dup
ENST00000535915.5:c.1063+1_1464-1dup
ENST00000545707.5:c.805+1_1206-1dup
ENST00000557933.5:c.1186+1_1587-1dup
ENST00000558013.5:c.1186+1_1587-1dup
ENST00000558518.5:c.1186+1_1587-1dup
ENST00000558518.6:c.1186+1_1587-1dup
ENST00000559340.2:c.1186+1_1587-1dup
ENST00000560467.2:c.1066+1_1467-1dup
XM_011528010.1:c.1186+1_1587-1dup
XM_011528010.2:c.1186+1_1587-1dup
XM_011528011.1:c.805+1_1206-1dup
XR_001753685.2:n.1303+1_1704-1dup
XR_001753686.2:n.1303+1_1704-1dup
XR_244074.2:n.1336+1_1737-1dup