Canonical Allele Identifier: CA2497030122

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105469del , CM000681.2:g.11105469del	GRCh38
NC_000019.9:g.11216145del , CM000681.1:g.11216145del	GRCh37
NC_000019.8:g.11077145del	NCBI36
NG_009060.1:g.21089del , LRG_274:g.21089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.821del	ENSP00000252444.6:p.Tyr274SerfsTer18
ENST00000559340.2:c.563del	ENSP00000453696.2:p.Tyr188SerfsTer18
ENST00000560467.2:c.563del	ENSP00000453513.2:p.Tyr188SerfsTer18
ENST00000558518.6:c.563del MANE Select	ENSP00000454071.1:p.Tyr188SerfsTer18
ENST00000252444.9:c.817del
ENST00000455727.6:c.314-1923del	ENSP00000397829.2:n.314-1923del
ENST00000535915.5:c.440del	ENSP00000440520.1:p.Tyr147SerfsTer18
ENST00000545707.5:c.314-1096del	ENSP00000437639.1:n.314-1096del
ENST00000557933.5:c.563del	ENSP00000453557.1:p.Tyr188SerfsTer18
ENST00000558013.5:c.563del	ENSP00000453346.1:p.Tyr188SerfsTer18
ENST00000558518.5:c.563del	ENSP00000454071.1:p.Tyr188SerfsTer18
ENST00000560467.1:c.163del
NM_000527.4:c.563del , LRG_274t1:c.563del	NP_000518.1:p.Tyr188SerfsTer18
NM_001195798.1:c.563del	NP_001182727.1:p.Tyr188SerfsTer18
NM_001195799.1:c.440del	NP_001182728.1:p.Tyr147SerfsTer18
NM_001195800.1:c.314-1923del	NP_001182729.1:n.314-1923del
NM_001195803.1:c.314-1096del	NP_001182732.1:n.314-1096del
XM_011528010.1:c.563del	XP_011526312.1:p.Tyr188SerfsTer18
XM_011528011.1:c.314-1096del	XP_011526313.1:n.314-1096del
XR_244074.2:n.713del
XM_011528010.2:c.563del	XP_011526312.1:p.Tyr188SerfsTer18
XR_001753685.2:n.680del
XR_001753686.2:n.680del
NM_000527.5:c.563del MANE Select	NP_000518.1:p.Tyr188SerfsTer18
NM_001195798.2:c.563del	NP_001182727.1:p.Tyr188SerfsTer18
NM_001195799.2:c.440del	NP_001182728.1:p.Tyr147SerfsTer18
NM_001195800.2:c.314-1923del	NP_001182729.1:n.314-1923del
NM_001195803.2:c.314-1096del	NP_001182732.1:n.314-1096del