Canonical Allele Identifier: CA2955303473

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107438dup , CM000681.2:g.11107438dup	GRCh38
NC_000019.9:g.11218114dup , CM000681.1:g.11218114dup	GRCh37
NC_000019.8:g.11079114dup	NCBI36
NG_009060.1:g.23058dup , LRG_274:g.23058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1122dup	ENSP00000252444.6:p.Cys375MetfsTer12
ENST00000559340.2:c.864dup	ENSP00000453696.2:p.Cys289MetfsTer12
ENST00000560467.2:c.864dup	ENSP00000453513.2:p.Cys289MetfsTer12
ENST00000558518.6:c.864dup MANE Select	ENSP00000454071.1:p.Cys289MetfsTer12
ENST00000252444.9:c.1118dup
ENST00000455727.6:c.360dup	ENSP00000397829.2:p.Cys121MetfsTer12
ENST00000535915.5:c.741dup	ENSP00000440520.1:p.Cys248MetfsTer12
ENST00000545707.5:c.483dup	ENSP00000437639.1:p.Cys162MetfsTer12
ENST00000557933.5:c.864dup	ENSP00000453557.1:p.Cys289MetfsTer12
ENST00000558013.5:c.864dup	ENSP00000453346.1:p.Cys289MetfsTer12
ENST00000558518.5:c.864dup	ENSP00000454071.1:p.Cys289MetfsTer12
ENST00000558528.1:n.379dup
ENST00000560467.1:c.464dup
NM_000527.4:c.864dup , LRG_274t1:c.864dup	NP_000518.1:p.Cys289MetfsTer12
NM_001195798.1:c.864dup	NP_001182727.1:p.Cys289MetfsTer12
NM_001195799.1:c.741dup	NP_001182728.1:p.Cys248MetfsTer12
NM_001195800.1:c.360dup	NP_001182729.1:p.Cys121MetfsTer12
NM_001195803.1:c.483dup	NP_001182732.1:p.Cys162MetfsTer12
XM_011528010.1:c.864dup	XP_011526312.1:p.Cys289MetfsTer12
XM_011528011.1:c.483dup	XP_011526313.1:p.Cys162MetfsTer12
XR_244074.2:n.1014dup
XM_011528010.2:c.864dup	XP_011526312.1:p.Cys289MetfsTer12
XR_001753685.2:n.981dup
XR_001753686.2:n.981dup
NM_000527.5:c.864dup MANE Select	NP_000518.1:p.Cys289MetfsTer12
NM_001195798.2:c.864dup	NP_001182727.1:p.Cys289MetfsTer12
NM_001195799.2:c.741dup	NP_001182728.1:p.Cys248MetfsTer12
NM_001195800.2:c.360dup	NP_001182729.1:p.Cys121MetfsTer12
NM_001195803.2:c.483dup	NP_001182732.1:p.Cys162MetfsTer12