Canonical Allele Identifier: CA2497030066

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113656_11116107del , CM000681.2:g.11113656_11116107del	GRCh38
NC_000019.9:g.11224332_11226783del , CM000681.1:g.11224332_11226783del	GRCh37
NC_000019.8:g.11085332_11087783del	NCBI36
NG_009060.1:g.29276_31727del , LRG_274:g.29276_31727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1738_1858del
ENST00000559340.2:c.1480_1600del
ENST00000560467.2:c.1360_1480del
ENST00000558518.6:c.1480_1600del
ENST00000252444.9:c.1734_1854del
ENST00000455727.6:c.976_1096del
ENST00000535915.5:c.1357_1477del
ENST00000545707.5:c.1099_1219del
ENST00000557933.5:c.1480_1600del
ENST00000558013.5:c.1480_1600del
ENST00000558518.5:c.1480_1600del
ENST00000559340.1:c.201_321del
NM_000527.4:c.1480_1600del , LRG_274t1:c.1480_1600del
NM_001195798.1:c.1480_1600del
NM_001195799.1:c.1357_1477del
NM_001195800.1:c.976_1096del
NM_001195803.1:c.1099_1219del
XM_011528010.1:c.1480_1600del
XM_011528011.1:c.1099_1219del
XR_244074.2:n.1630_1750del
XM_011528010.2:c.1480_1600del
XR_001753685.2:n.1597_1717del
XR_001753686.2:n.1597_1717del
NM_000527.5:c.1480_1600del
NM_001195798.2:c.1480_1600del
NM_001195799.2:c.1357_1477del
NM_001195800.2:c.976_1096del
NM_001195803.2:c.1099_1219del