Canonical Allele Identifier: CA1139532853

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1758997
• ClinVar RCV Id: RCV002471281 ; RCV002385138

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113335_11113336del , CM000681.2:g.11113335_11113336del	GRCh38
NC_000019.9:g.11224011_11224012del , CM000681.1:g.11224011_11224012del	GRCh37
NC_000019.8:g.11085011_11085012del	NCBI36
NG_009060.1:g.28955_28956del , LRG_274:g.28955_28956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1502_1503del	ENSP00000252444.6:p.Asp501AlafsTer25
ENST00000559340.2:c.1244_1245del	ENSP00000453696.2:p.Asp415AlafsTer25
ENST00000560467.2:c.1124_1125del	ENSP00000453513.2:p.Asp375AlafsTer25
ENST00000558518.6:c.1244_1245del MANE Select	ENSP00000454071.1:p.Asp415AlafsTer25
ENST00000252444.9:c.1498_1499del
ENST00000455727.6:c.740_741del	ENSP00000397829.2:p.Asp247AlafsTer25
ENST00000535915.5:c.1121_1122del	ENSP00000440520.1:p.Asp374AlafsTer25
ENST00000545707.5:c.863_864del	ENSP00000437639.1:p.Asp288AlafsTer25
ENST00000557933.5:c.1244_1245del	ENSP00000453557.1:p.Asp415AlafsTer25
ENST00000558013.5:c.1244_1245del	ENSP00000453346.1:p.Asp415AlafsTer25
ENST00000558518.5:c.1244_1245del	ENSP00000454071.1:p.Asp415AlafsTer25
ENST00000560173.1:n.243_244del
ENST00000560467.1:c.724_725del
NM_000527.4:c.1244_1245del , LRG_274t1:c.1244_1245del	NP_000518.1:p.Asp415AlafsTer25
NM_001195798.1:c.1244_1245del	NP_001182727.1:p.Asp415AlafsTer25
NM_001195799.1:c.1121_1122del	NP_001182728.1:p.Asp374AlafsTer25
NM_001195800.1:c.740_741del	NP_001182729.1:p.Asp247AlafsTer25
NM_001195803.1:c.863_864del	NP_001182732.1:p.Asp288AlafsTer25
XM_011528010.1:c.1244_1245del	XP_011526312.1:p.Asp415AlafsTer25
XM_011528011.1:c.863_864del	XP_011526313.1:p.Asp288AlafsTer25
XR_244074.2:n.1394_1395del
XM_011528010.2:c.1244_1245del	XP_011526312.1:p.Asp415AlafsTer25
XR_001753685.2:n.1361_1362del
XR_001753686.2:n.1361_1362del
NM_000527.5:c.1244_1245del MANE Select	NP_000518.1:p.Asp415AlafsTer25
NM_001195798.2:c.1244_1245del	NP_001182727.1:p.Asp415AlafsTer25
NM_001195799.2:c.1121_1122del	NP_001182728.1:p.Asp374AlafsTer25
NM_001195800.2:c.740_741del	NP_001182729.1:p.Asp247AlafsTer25
NM_001195803.2:c.863_864del	NP_001182732.1:p.Asp288AlafsTer25