Canonical Allele Identifier: CA2497030063

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113548dup , CM000681.2:g.11113548dup	GRCh38
NC_000019.9:g.11224224dup , CM000681.1:g.11224224dup	GRCh37
NC_000019.8:g.11085224dup	NCBI36
NG_009060.1:g.29168dup , LRG_274:g.29168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1630dup	ENSP00000252444.6:p.Arg544LysfsTer9
ENST00000559340.2:c.1372dup	ENSP00000453696.2:p.Arg458LysfsTer9
ENST00000560467.2:c.1252dup	ENSP00000453513.2:p.Arg418LysfsTer9
ENST00000558518.6:c.1372dup MANE Select	ENSP00000454071.1:p.Arg458LysfsTer9
ENST00000252444.9:c.1626dup
ENST00000455727.6:c.868dup	ENSP00000397829.2:p.Arg290LysfsTer9
ENST00000535915.5:c.1249dup	ENSP00000440520.1:p.Arg417LysfsTer9
ENST00000545707.5:c.991dup	ENSP00000437639.1:p.Arg331LysfsTer9
ENST00000557933.5:c.1372dup	ENSP00000453557.1:p.Arg458LysfsTer9
ENST00000558013.5:c.1372dup	ENSP00000453346.1:p.Arg458LysfsTer9
ENST00000558518.5:c.1372dup	ENSP00000454071.1:p.Arg458LysfsTer9
ENST00000559340.1:c.93dup
ENST00000560467.1:c.852dup
NM_000527.4:c.1372dup , LRG_274t1:c.1372dup	NP_000518.1:p.Arg458LysfsTer9
NM_001195798.1:c.1372dup	NP_001182727.1:p.Arg458LysfsTer9
NM_001195799.1:c.1249dup	NP_001182728.1:p.Arg417LysfsTer9
NM_001195800.1:c.868dup	NP_001182729.1:p.Arg290LysfsTer9
NM_001195803.1:c.991dup	NP_001182732.1:p.Arg331LysfsTer9
XM_011528010.1:c.1372dup	XP_011526312.1:p.Arg458LysfsTer9
XM_011528011.1:c.991dup	XP_011526313.1:p.Arg331LysfsTer9
XR_244074.2:n.1522dup
XM_011528010.2:c.1372dup	XP_011526312.1:p.Arg458LysfsTer9
XR_001753685.2:n.1489dup
XR_001753686.2:n.1489dup
NM_000527.5:c.1372dup MANE Select	NP_000518.1:p.Arg458LysfsTer9
NM_001195798.2:c.1372dup	NP_001182727.1:p.Arg458LysfsTer9
NM_001195799.2:c.1249dup	NP_001182728.1:p.Arg417LysfsTer9
NM_001195800.2:c.868dup	NP_001182729.1:p.Arg290LysfsTer9
NM_001195803.2:c.991dup	NP_001182732.1:p.Arg331LysfsTer9