Canonical Allele Identifier: CA913188986

Gene: LDLR

Linked Data

• ClinVar Variation Id: 979066
• ClinVar RCV Id: RCV001258044
• dbSNP Id: rs2077407494

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113305_11113308dup , CM000681.2:g.11113305_11113308dup	GRCh38
NC_000019.9:g.11223981_11223984dup , CM000681.1:g.11223981_11223984dup	GRCh37
NC_000019.8:g.11084981_11084984dup	NCBI36
NG_009060.1:g.28925_28928dup , LRG_274:g.28925_28928dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1472_1475dup	ENSP00000252444.6:p.His493ProfsTer?
ENST00000559340.2:c.1214_1217dup	ENSP00000453696.2:p.His407ProfsTer?
ENST00000560467.2:c.1094_1097dup	ENSP00000453513.2:p.His367ProfsTer?
ENST00000558518.6:c.1214_1217dup MANE Select	ENSP00000454071.1:p.His407ProfsTer?
ENST00000252444.9:c.1468_1471dup
ENST00000455727.6:c.710_713dup	ENSP00000397829.2:p.His239ProfsTer?
ENST00000535915.5:c.1091_1094dup	ENSP00000440520.1:p.His366ProfsTer?
ENST00000545707.5:c.833_836dup	ENSP00000437639.1:p.His280ProfsTer?
ENST00000557933.5:c.1214_1217dup	ENSP00000453557.1:p.His407ProfsTer?
ENST00000558013.5:c.1214_1217dup	ENSP00000453346.1:p.His407ProfsTer?
ENST00000558518.5:c.1214_1217dup	ENSP00000454071.1:p.His407ProfsTer?
ENST00000560173.1:n.213_216dup
ENST00000560467.1:c.694_697dup
NM_000527.4:c.1214_1217dup , LRG_274t1:c.1214_1217dup	NP_000518.1:p.His407ProfsTer?
NM_001195798.1:c.1214_1217dup	NP_001182727.1:p.His407ProfsTer?
NM_001195799.1:c.1091_1094dup	NP_001182728.1:p.His366ProfsTer?
NM_001195800.1:c.710_713dup	NP_001182729.1:p.His239ProfsTer?
NM_001195803.1:c.833_836dup	NP_001182732.1:p.His280ProfsTer?
XM_011528010.1:c.1214_1217dup	XP_011526312.1:p.His407ProfsTer?
XM_011528011.1:c.833_836dup	XP_011526313.1:p.His280ProfsTer?
XR_244074.2:n.1364_1367dup
XM_011528010.2:c.1214_1217dup	XP_011526312.1:p.His407ProfsTer?
XR_001753685.2:n.1331_1334dup
XR_001753686.2:n.1331_1334dup
NM_000527.5:c.1214_1217dup MANE Select	NP_000518.1:p.His407ProfsTer?
NM_001195798.2:c.1214_1217dup	NP_001182727.1:p.His407ProfsTer?
NM_001195799.2:c.1091_1094dup	NP_001182728.1:p.His366ProfsTer?
NM_001195800.2:c.710_713dup	NP_001182729.1:p.His239ProfsTer?
NM_001195803.2:c.833_836dup	NP_001182732.1:p.His280ProfsTer?