Canonical Allele Identifier: CA3268024434

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113433_11116099del , CM000681.2:g.11113433_11116099del	GRCh38
NC_000019.9:g.11224109_11226775del , CM000681.1:g.11224109_11226775del	GRCh37
NC_000019.8:g.11085109_11087775del	NCBI36
NG_009060.1:g.29053_31719del , LRG_274:g.29053_31719del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1342_1592del , LRG_274t1:c.1342_1592del
NM_000527.5:c.1342_1592del
NM_001195798.1:c.1342_1592del
NM_001195798.2:c.1342_1592del
NM_001195799.1:c.1219_1469del
NM_001195799.2:c.1219_1469del
NM_001195800.1:c.838_1088del
NM_001195800.2:c.838_1088del
NM_001195803.1:c.961_1211del
NM_001195803.2:c.961_1211del
ENST00000252444.10:c.1600_1850del
ENST00000252444.9:c.1596_1846del
ENST00000455727.6:c.838_1088del
ENST00000535915.5:c.1219_1469del
ENST00000545707.5:c.961_1211del
ENST00000557933.5:c.1342_1592del
ENST00000558013.5:c.1342_1592del
ENST00000558518.5:c.1342_1592del
ENST00000558518.6:c.1342_1592del
ENST00000559340.1:c.63_313del
ENST00000559340.2:c.1342_1592del
ENST00000560467.2:c.1222_1472del
XM_011528010.1:c.1342_1592del
XM_011528010.2:c.1342_1592del
XM_011528011.1:c.961_1211del
XR_001753685.2:n.1459_1709del
XR_001753686.2:n.1459_1709del
XR_244074.2:n.1492_1742del