Canonical Allele Identifier: CA3268024580

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113752_11116137del , CM000681.2:g.11113752_11116137del	GRCh38
NC_000019.9:g.11224428_11226813del , CM000681.1:g.11224428_11226813del	GRCh37
NC_000019.8:g.11085428_11087813del	NCBI36
NG_009060.1:g.29372_31757del , LRG_274:g.29372_31757del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1576_1630del , LRG_274t1:c.1576_1630del
NM_000527.5:c.1576_1630del
NM_001195798.1:c.1576_1630del
NM_001195798.2:c.1576_1630del
NM_001195799.1:c.1453_1507del
NM_001195799.2:c.1453_1507del
NM_001195800.1:c.1072_1126del
NM_001195800.2:c.1072_1126del
NM_001195803.1:c.1195_1249del
NM_001195803.2:c.1195_1249del
ENST00000252444.10:c.1834_1888del
ENST00000252444.9:c.1830_1884del
ENST00000455727.6:c.1072_1126del
ENST00000535915.5:c.1453_1507del
ENST00000545707.5:c.1195_1249del
ENST00000557933.5:c.1576_1630del
ENST00000558013.5:c.1576_1630del
ENST00000558518.5:c.1576_1630del
ENST00000558518.6:c.1576_1630del
ENST00000559340.1:c.297_351del
ENST00000559340.2:c.1576_1630del
ENST00000560467.2:c.1456_1510del
XM_011528010.1:c.1576_1630del
XM_011528010.2:c.1576_1630del
XM_011528011.1:c.1195_1249del
XR_001753685.2:n.1693_1747del
XR_001753686.2:n.1693_1747del
XR_244074.2:n.1726_1780del