Canonical Allele Identifier: CA3268024581

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113754_11116126del , CM000681.2:g.11113754_11116126del	GRCh38
NC_000019.9:g.11224430_11226802del , CM000681.1:g.11224430_11226802del	GRCh37
NC_000019.8:g.11085430_11087802del	NCBI36
NG_009060.1:g.29374_31746del , LRG_274:g.29374_31746del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1578_1619del , LRG_274t1:c.1578_1619del
NM_000527.5:c.1578_1619del
NM_001195798.1:c.1578_1619del
NM_001195798.2:c.1578_1619del
NM_001195799.1:c.1455_1496del
NM_001195799.2:c.1455_1496del
NM_001195800.1:c.1074_1115del
NM_001195800.2:c.1074_1115del
NM_001195803.1:c.1197_1238del
NM_001195803.2:c.1197_1238del
ENST00000252444.10:c.1836_1877del
ENST00000252444.9:c.1832_1873del
ENST00000455727.6:c.1074_1115del
ENST00000535915.5:c.1455_1496del
ENST00000545707.5:c.1197_1238del
ENST00000557933.5:c.1578_1619del
ENST00000558013.5:c.1578_1619del
ENST00000558518.5:c.1578_1619del
ENST00000558518.6:c.1578_1619del
ENST00000559340.1:c.299_340del
ENST00000559340.2:c.1578_1619del
ENST00000560467.2:c.1458_1499del
XM_011528010.1:c.1578_1619del
XM_011528010.2:c.1578_1619del
XM_011528011.1:c.1197_1238del
XR_001753685.2:n.1695_1736del
XR_001753686.2:n.1695_1736del
XR_244074.2:n.1728_1769del