Canonical Allele Identifier: CA3268024433

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113433_11116108del , CM000681.2:g.11113433_11116108del	GRCh38
NC_000019.9:g.11224109_11226784del , CM000681.1:g.11224109_11226784del	GRCh37
NC_000019.8:g.11085109_11087784del	NCBI36
NG_009060.1:g.29053_31728del , LRG_274:g.29053_31728del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1342_1601del , LRG_274t1:c.1342_1601del
NM_000527.5:c.1342_1601del
NM_001195798.1:c.1342_1601del
NM_001195798.2:c.1342_1601del
NM_001195799.1:c.1219_1478del
NM_001195799.2:c.1219_1478del
NM_001195800.1:c.838_1097del
NM_001195800.2:c.838_1097del
NM_001195803.1:c.961_1220del
NM_001195803.2:c.961_1220del
ENST00000252444.10:c.1600_1859del
ENST00000252444.9:c.1596_1855del
ENST00000455727.6:c.838_1097del
ENST00000535915.5:c.1219_1478del
ENST00000545707.5:c.961_1220del
ENST00000557933.5:c.1342_1601del
ENST00000558013.5:c.1342_1601del
ENST00000558518.5:c.1342_1601del
ENST00000558518.6:c.1342_1601del
ENST00000559340.1:c.63_322del
ENST00000559340.2:c.1342_1601del
ENST00000560467.2:c.1222_1481del
XM_011528010.1:c.1342_1601del
XM_011528010.2:c.1342_1601del
XM_011528011.1:c.961_1220del
XR_001753685.2:n.1459_1718del
XR_001753686.2:n.1459_1718del
XR_244074.2:n.1492_1751del