Canonical Allele Identifier: CA2580096441

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2094436
• ClinVar RCV Id: RCV002997047

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105372_11105377del , CM000681.2:g.11105372_11105377del	GRCh38
NC_000019.9:g.11216048_11216053del , CM000681.1:g.11216048_11216053del	GRCh37
NC_000019.8:g.11077048_11077053del	NCBI36
NG_009060.1:g.20992_20997del , LRG_274:g.20992_20997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.724_729del	ENSP00000252444.6:p.Asn242_Ser243del
ENST00000559340.2:c.466_471del	ENSP00000453696.2:p.Asn156_Ser157del
ENST00000560467.2:c.466_471del	ENSP00000453513.2:p.Asn156_Ser157del
ENST00000558518.6:c.466_471del MANE Select	ENSP00000454071.1:p.Asn156_Ser157del
ENST00000252444.9:c.720_725del
ENST00000455727.6:c.314-2020_314-2015del	ENSP00000397829.2:n.314-2020_314-2015del
ENST00000535915.5:c.343_348del	ENSP00000440520.1:p.Asn115_Ser116del
ENST00000545707.5:c.314-1193_314-1188del	ENSP00000437639.1:n.314-1193_314-1188del
ENST00000557933.5:c.466_471del	ENSP00000453557.1:p.Asn156_Ser157del
ENST00000558013.5:c.466_471del	ENSP00000453346.1:p.Asn156_Ser157del
ENST00000558518.5:c.466_471del	ENSP00000454071.1:p.Asn156_Ser157del
ENST00000560467.1:c.66_71del
NM_000527.4:c.466_471del , LRG_274t1:c.466_471del	NP_000518.1:p.Asn156_Ser157del
NM_001195798.1:c.466_471del	NP_001182727.1:p.Asn156_Ser157del
NM_001195799.1:c.343_348del	NP_001182728.1:p.Asn115_Ser116del
NM_001195800.1:c.314-2020_314-2015del	NP_001182729.1:n.314-2020_314-2015del
NM_001195803.1:c.314-1193_314-1188del	NP_001182732.1:n.314-1193_314-1188del
XM_011528010.1:c.466_471del	XP_011526312.1:p.Asn156_Ser157del
XM_011528011.1:c.314-1193_314-1188del	XP_011526313.1:n.314-1193_314-1188del
XR_244074.2:n.616_621del
XM_011528010.2:c.466_471del	XP_011526312.1:p.Asn156_Ser157del
XR_001753685.2:n.583_588del
XR_001753686.2:n.583_588del
NM_000527.5:c.466_471del MANE Select	NP_000518.1:p.Asn156_Ser157del
NM_001195798.2:c.466_471del	NP_001182727.1:p.Asn156_Ser157del
NM_001195799.2:c.343_348del	NP_001182728.1:p.Asn115_Ser116del
NM_001195800.2:c.314-2020_314-2015del	NP_001182729.1:n.314-2020_314-2015del
NM_001195803.2:c.314-1193_314-1188del	NP_001182732.1:n.314-1193_314-1188del