Canonical Allele Identifier: CA3268024436

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113434_11116094del , CM000681.2:g.11113434_11116094del	GRCh38
NC_000019.9:g.11224110_11226770del , CM000681.1:g.11224110_11226770del	GRCh37
NC_000019.8:g.11085110_11087770del	NCBI36
NG_009060.1:g.29054_31714del , LRG_274:g.29054_31714del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.4:c.1343_1587del , LRG_274t1:c.1343_1587del
NM_000527.5:c.1343_1587del
NM_001195798.1:c.1343_1587del
NM_001195798.2:c.1343_1587del
NM_001195799.1:c.1220_1464del
NM_001195799.2:c.1220_1464del
NM_001195800.1:c.839_1083del
NM_001195800.2:c.839_1083del
NM_001195803.1:c.962_1206del
NM_001195803.2:c.962_1206del
ENST00000252444.10:c.1601_1845del
ENST00000252444.9:c.1597_1841del
ENST00000455727.6:c.839_1083del
ENST00000535915.5:c.1220_1464del
ENST00000545707.5:c.962_1206del
ENST00000557933.5:c.1343_1587del
ENST00000558013.5:c.1343_1587del
ENST00000558518.5:c.1343_1587del
ENST00000558518.6:c.1343_1587del
ENST00000559340.1:c.64_308del
ENST00000559340.2:c.1343_1587del
ENST00000560467.2:c.1223_1467del
XM_011528010.1:c.1343_1587del
XM_011528010.2:c.1343_1587del
XM_011528011.1:c.962_1206del
XR_001753685.2:n.1460_1704del
XR_001753686.2:n.1460_1704del
XR_244074.2:n.1493_1737del