Canonical Allele Identifier: CA3268024530

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113569_11116141del , CM000681.2:g.11113569_11116141del	GRCh38
NC_000019.9:g.11224245_11226817del , CM000681.1:g.11224245_11226817del	GRCh37
NC_000019.8:g.11085245_11087817del	NCBI36
NG_009060.1:g.29189_31761del , LRG_274:g.29189_31761del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1393_1634del , LRG_274t1:c.1393_1634del
NM_000527.5:c.1393_1634del
NM_001195798.1:c.1393_1634del
NM_001195798.2:c.1393_1634del
NM_001195799.1:c.1270_1511del
NM_001195799.2:c.1270_1511del
NM_001195800.1:c.889_1130del
NM_001195800.2:c.889_1130del
NM_001195803.1:c.1012_1253del
NM_001195803.2:c.1012_1253del
ENST00000252444.10:c.1651_1892del
ENST00000252444.9:c.1647_1888del
ENST00000455727.6:c.889_1130del
ENST00000535915.5:c.1270_1511del
ENST00000545707.5:c.1012_1253del
ENST00000557933.5:c.1393_1634del
ENST00000558013.5:c.1393_1634del
ENST00000558518.5:c.1393_1634del
ENST00000558518.6:c.1393_1634del
ENST00000559340.1:c.114_355del
ENST00000559340.2:c.1393_1634del
ENST00000560467.2:c.1273_1514del
XM_011528010.1:c.1393_1634del
XM_011528010.2:c.1393_1634del
XM_011528011.1:c.1012_1253del
XR_001753685.2:n.1510_1751del
XR_001753686.2:n.1510_1751del
XR_244074.2:n.1543_1784del