Canonical Allele Identifier: CA3268024439

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113433_11116114del , CM000681.2:g.11113433_11116114del	GRCh38
NC_000019.9:g.11224109_11226790del , CM000681.1:g.11224109_11226790del	GRCh37
NC_000019.8:g.11085109_11087790del	NCBI36
NG_009060.1:g.29053_31734del , LRG_274:g.29053_31734del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1342_1607del , LRG_274t1:c.1342_1607del
NM_000527.5:c.1342_1607del
NM_001195798.1:c.1342_1607del
NM_001195798.2:c.1342_1607del
NM_001195799.1:c.1219_1484del
NM_001195799.2:c.1219_1484del
NM_001195800.1:c.838_1103del
NM_001195800.2:c.838_1103del
NM_001195803.1:c.961_1226del
NM_001195803.2:c.961_1226del
ENST00000252444.10:c.1600_1865del
ENST00000252444.9:c.1596_1861del
ENST00000455727.6:c.838_1103del
ENST00000535915.5:c.1219_1484del
ENST00000545707.5:c.961_1226del
ENST00000557933.5:c.1342_1607del
ENST00000558013.5:c.1342_1607del
ENST00000558518.5:c.1342_1607del
ENST00000558518.6:c.1342_1607del
ENST00000559340.1:c.63_328del
ENST00000559340.2:c.1342_1607del
ENST00000560467.2:c.1222_1487del
XM_011528010.1:c.1342_1607del
XM_011528010.2:c.1342_1607del
XM_011528011.1:c.961_1226del
XR_001753685.2:n.1459_1724del
XR_001753686.2:n.1459_1724del
XR_244074.2:n.1492_1757del