Canonical Allele Identifier: CA2695228182

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113653_11113664del , CM000681.2:g.11113653_11113664del	GRCh38
NC_000019.9:g.11224329_11224340del , CM000681.1:g.11224329_11224340del	GRCh37
NC_000019.8:g.11085329_11085340del	NCBI36
NG_009060.1:g.29273_29284del , LRG_274:g.29273_29284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1735_1746del	ENSP00000252444.6:p.Ser579_Gly582del
ENST00000559340.2:c.1477_1488del	ENSP00000453696.2:p.Ser493_Gly496del
ENST00000560467.2:c.1357_1368del	ENSP00000453513.2:p.Ser453_Gly456del
ENST00000558518.6:c.1477_1488del MANE Select	ENSP00000454071.1:p.Ser493_Gly496del
ENST00000252444.9:c.1731_1742del
ENST00000455727.6:c.973_984del	ENSP00000397829.2:p.Ser325_Gly328del
ENST00000535915.5:c.1354_1365del	ENSP00000440520.1:p.Ser452_Gly455del
ENST00000545707.5:c.1096_1107del	ENSP00000437639.1:p.Ser366_Gly369del
ENST00000557933.5:c.1477_1488del	ENSP00000453557.1:p.Ser493_Gly496del
ENST00000558013.5:c.1477_1488del	ENSP00000453346.1:p.Ser493_Gly496del
ENST00000558518.5:c.1477_1488del	ENSP00000454071.1:p.Ser493_Gly496del
ENST00000559340.1:c.198_209del
NM_000527.4:c.1477_1488del , LRG_274t1:c.1477_1488del	NP_000518.1:p.Ser493_Gly496del
NM_001195798.1:c.1477_1488del	NP_001182727.1:p.Ser493_Gly496del
NM_001195799.1:c.1354_1365del	NP_001182728.1:p.Ser452_Gly455del
NM_001195800.1:c.973_984del	NP_001182729.1:p.Ser325_Gly328del
NM_001195803.1:c.1096_1107del	NP_001182732.1:p.Ser366_Gly369del
XM_011528010.1:c.1477_1488del	XP_011526312.1:p.Ser493_Gly496del
XM_011528011.1:c.1096_1107del	XP_011526313.1:p.Ser366_Gly369del
XR_244074.2:n.1627_1638del
XM_011528010.2:c.1477_1488del	XP_011526312.1:p.Ser493_Gly496del
XR_001753685.2:n.1594_1605del
XR_001753686.2:n.1594_1605del
NM_000527.5:c.1477_1488del MANE Select	NP_000518.1:p.Ser493_Gly496del
NM_001195798.2:c.1477_1488del	NP_001182727.1:p.Ser493_Gly496del
NM_001195799.2:c.1354_1365del	NP_001182728.1:p.Ser452_Gly455del
NM_001195800.2:c.973_984del	NP_001182729.1:p.Ser325_Gly328del
NM_001195803.2:c.1096_1107del	NP_001182732.1:p.Ser366_Gly369del