Canonical Allele Identifier: CA2322768667

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107514_11107518delinsGGTGA , CM000681.2:g.11107514_11107518delinsGGTGA	GRCh38
NC_000019.9:g.11218190_11218194delinsGGTGA , CM000681.1:g.11218190_11218194delinsGGTGA	GRCh37
NC_000019.8:g.11079190_11079194delinsGGTGA	NCBI36
NG_009060.1:g.23134_23138delinsGGTGA , LRG_274:g.23134_23138delinsGGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1198_1198+4delinsGGTGA
ENST00000559340.2:c.940_940+4delinsGGTGA
ENST00000560467.2:c.940_940+4delinsGGTGA
ENST00000558518.6:c.940_940+4delinsGGTGA
ENST00000252444.9:c.1194_1194+4delinsGGTGA
ENST00000455727.6:c.436_436+4delinsGGTGA
ENST00000535915.5:c.817_817+4delinsGGTGA
ENST00000545707.5:c.559_559+4delinsGGTGA
ENST00000557933.5:c.940_940+4delinsGGTGA
ENST00000558013.5:c.940_940+4delinsGGTGA
ENST00000558518.5:c.940_940+4delinsGGTGA
ENST00000560467.1:c.540_540+4delinsGGTGA
NM_000527.4:c.940_940+4delinsGGTGA , LRG_274t1:c.940_940+4delinsGGTGA
NM_001195798.1:c.940_940+4delinsGGTGA
NM_001195799.1:c.817_817+4delinsGGTGA
NM_001195800.1:c.436_436+4delinsGGTGA
NM_001195803.1:c.559_559+4delinsGGTGA
XM_011528010.1:c.940_940+4delinsGGTGA
XM_011528011.1:c.559_559+4delinsGGTGA
XR_244074.2:n.1090_1090+4delinsGGTGA
XM_011528010.2:c.940_940+4delinsGGTGA
XR_001753685.2:n.1057_1057+4delinsGGTGA
XR_001753686.2:n.1057_1057+4delinsGGTGA
NM_000527.5:c.940_940+4delinsGGTGA
NM_001195798.2:c.940_940+4delinsGGTGA
NM_001195799.2:c.817_817+4delinsGGTGA
NM_001195800.2:c.436_436+4delinsGGTGA
NM_001195803.2:c.559_559+4delinsGGTGA