Canonical Allele Identifier: CA2573155702

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1321223
• ClinVar RCV Id: RCV002227550
• dbSNP Id: rs2147224952

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105513del , CM000681.2:g.11105513del	GRCh38
NC_000019.9:g.11216189del , CM000681.1:g.11216189del	GRCh37
NC_000019.8:g.11077189del	NCBI36
NG_009060.1:g.21133del , LRG_274:g.21133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.865del	ENSP00000252444.6:p.His289ThrfsTer3
ENST00000559340.2:c.607del	ENSP00000453696.2:p.His203ThrfsTer3
ENST00000560467.2:c.607del	ENSP00000453513.2:p.His203ThrfsTer3
ENST00000558518.6:c.607del MANE Select	ENSP00000454071.1:p.His203ThrfsTer3
ENST00000252444.9:c.861del
ENST00000455727.6:c.314-1879del	ENSP00000397829.2:n.314-1879del
ENST00000535915.5:c.484del	ENSP00000440520.1:p.His162ThrfsTer3
ENST00000545707.5:c.314-1052del	ENSP00000437639.1:n.314-1052del
ENST00000557933.5:c.607del	ENSP00000453557.1:p.His203ThrfsTer3
ENST00000558013.5:c.607del	ENSP00000453346.1:p.His203ThrfsTer3
ENST00000558518.5:c.607del	ENSP00000454071.1:p.His203ThrfsTer3
ENST00000560467.1:c.207del
NM_000527.4:c.607del , LRG_274t1:c.607del	NP_000518.1:p.His203ThrfsTer3
NM_001195798.1:c.607del	NP_001182727.1:p.His203ThrfsTer3
NM_001195799.1:c.484del	NP_001182728.1:p.His162ThrfsTer3
NM_001195800.1:c.314-1879del	NP_001182729.1:n.314-1879del
NM_001195803.1:c.314-1052del	NP_001182732.1:n.314-1052del
XM_011528010.1:c.607del	XP_011526312.1:p.His203ThrfsTer3
XM_011528011.1:c.314-1052del	XP_011526313.1:n.314-1052del
XR_244074.2:n.757del
XM_011528010.2:c.607del	XP_011526312.1:p.His203ThrfsTer3
XR_001753685.2:n.724del
XR_001753686.2:n.724del
NM_000527.5:c.607del MANE Select	NP_000518.1:p.His203ThrfsTer3
NM_001195798.2:c.607del	NP_001182727.1:p.His203ThrfsTer3
NM_001195799.2:c.484del	NP_001182728.1:p.His162ThrfsTer3
NM_001195800.2:c.314-1879del	NP_001182729.1:n.314-1879del
NM_001195803.2:c.314-1052del	NP_001182732.1:n.314-1052del