Canonical Allele Identifier: CA2560332380

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107481del , CM000681.2:g.11107481del	GRCh38
NC_000019.9:g.11218157del , CM000681.1:g.11218157del	GRCh37
NC_000019.8:g.11079157del	NCBI36
NG_009060.1:g.23101del , LRG_274:g.23101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1165del	ENSP00000252444.6:p.Arg389GlyfsTer?
ENST00000559340.2:c.907del	ENSP00000453696.2:p.Arg303GlyfsTer?
ENST00000560467.2:c.907del	ENSP00000453513.2:p.Arg303GlyfsTer27
ENST00000558518.6:c.907del MANE Select	ENSP00000454071.1:p.Arg303GlyfsTer?
ENST00000252444.9:c.1161del
ENST00000455727.6:c.403del	ENSP00000397829.2:p.Arg135GlyfsTer?
ENST00000535915.5:c.784del	ENSP00000440520.1:p.Arg262GlyfsTer?
ENST00000545707.5:c.526del	ENSP00000437639.1:p.Arg176GlyfsTer?
ENST00000557933.5:c.907del	ENSP00000453557.1:p.Arg303GlyfsTer?
ENST00000558013.5:c.907del	ENSP00000453346.1:p.Arg303GlyfsTer?
ENST00000558518.5:c.907del	ENSP00000454071.1:p.Arg303GlyfsTer?
ENST00000558528.1:n.422del
ENST00000560467.1:c.507del
NM_000527.4:c.907del , LRG_274t1:c.907del	NP_000518.1:p.Arg303GlyfsTer?
NM_001195798.1:c.907del	NP_001182727.1:p.Arg303GlyfsTer?
NM_001195799.1:c.784del	NP_001182728.1:p.Arg262GlyfsTer?
NM_001195800.1:c.403del	NP_001182729.1:p.Arg135GlyfsTer?
NM_001195803.1:c.526del	NP_001182732.1:p.Arg176GlyfsTer?
XM_011528010.1:c.907del	XP_011526312.1:p.Arg303GlyfsTer?
XM_011528011.1:c.526del	XP_011526313.1:p.Arg176GlyfsTer?
XR_244074.2:n.1057del
XM_011528010.2:c.907del	XP_011526312.1:p.Arg303GlyfsTer?
XR_001753685.2:n.1024del
XR_001753686.2:n.1024del
NM_000527.5:c.907del MANE Select	NP_000518.1:p.Arg303GlyfsTer?
NM_001195798.2:c.907del	NP_001182727.1:p.Arg303GlyfsTer?
NM_001195799.2:c.784del	NP_001182728.1:p.Arg262GlyfsTer?
NM_001195800.2:c.403del	NP_001182729.1:p.Arg135GlyfsTer?
NM_001195803.2:c.526del	NP_001182732.1:p.Arg176GlyfsTer?