Canonical Allele Identifier: CA2499225322

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1076861
• ClinVar RCV Id: RCV001390889
• dbSNP Id: rs2147249432

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113707_11113708dup , CM000681.2:g.11113707_11113708dup	GRCh38
NC_000019.9:g.11224383_11224384dup , CM000681.1:g.11224383_11224384dup	GRCh37
NC_000019.8:g.11085383_11085384dup	NCBI36
NG_009060.1:g.29327_29328dup , LRG_274:g.29327_29328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1789_1790dup	ENSP00000252444.6:p.Leu597PhefsTer?
ENST00000559340.2:c.1531_1532dup	ENSP00000453696.2:p.Leu511PhefsTer?
ENST00000560467.2:c.1411_1412dup	ENSP00000453513.2:p.Leu471PhefsTer?
ENST00000558518.6:c.1531_1532dup MANE Select	ENSP00000454071.1:p.Leu511PhefsTer?
ENST00000252444.9:c.1785_1786dup
ENST00000455727.6:c.1027_1028dup	ENSP00000397829.2:p.Leu343PhefsTer?
ENST00000535915.5:c.1408_1409dup	ENSP00000440520.1:p.Leu470PhefsTer?
ENST00000545707.5:c.1150_1151dup	ENSP00000437639.1:p.Leu384PhefsTer?
ENST00000557933.5:c.1531_1532dup	ENSP00000453557.1:p.Leu511PhefsTer?
ENST00000558013.5:c.1531_1532dup	ENSP00000453346.1:p.Leu511PhefsTer?
ENST00000558518.5:c.1531_1532dup	ENSP00000454071.1:p.Leu511PhefsTer?
ENST00000559340.1:c.252_253dup
NM_000527.4:c.1531_1532dup , LRG_274t1:c.1531_1532dup	NP_000518.1:p.Leu511PhefsTer?
NM_001195798.1:c.1531_1532dup	NP_001182727.1:p.Leu511PhefsTer?
NM_001195799.1:c.1408_1409dup	NP_001182728.1:p.Leu470PhefsTer?
NM_001195800.1:c.1027_1028dup	NP_001182729.1:p.Leu343PhefsTer?
NM_001195803.1:c.1150_1151dup	NP_001182732.1:p.Leu384PhefsTer?
XM_011528010.1:c.1531_1532dup	XP_011526312.1:p.Leu511PhefsTer?
XM_011528011.1:c.1150_1151dup	XP_011526313.1:p.Leu384PhefsTer?
XR_244074.2:n.1681_1682dup
XM_011528010.2:c.1531_1532dup	XP_011526312.1:p.Leu511PhefsTer?
XR_001753685.2:n.1648_1649dup
XR_001753686.2:n.1648_1649dup
NM_000527.5:c.1531_1532dup MANE Select	NP_000518.1:p.Leu511PhefsTer?
NM_001195798.2:c.1531_1532dup	NP_001182727.1:p.Leu511PhefsTer?
NM_001195799.2:c.1408_1409dup	NP_001182728.1:p.Leu470PhefsTer?
NM_001195800.2:c.1027_1028dup	NP_001182729.1:p.Leu343PhefsTer?
NM_001195803.2:c.1150_1151dup	NP_001182732.1:p.Leu384PhefsTer?