Canonical Allele Identifier: CA2695238680

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100244_11100247dup , CM000681.2:g.11100244_11100247dup	GRCh38
NC_000019.9:g.11210920_11210923dup , CM000681.1:g.11210920_11210923dup	GRCh37
NC_000019.8:g.11071920_11071923dup	NCBI36
NG_009060.1:g.15864_15867dup , LRG_274:g.15864_15867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.347_350dup	ENSP00000252444.6:p.Phe118ArgfsTer21
ENST00000559340.2:c.89_92dup	ENSP00000453696.2:p.Phe32ArgfsTer21
ENST00000560467.2:c.89_92dup	ENSP00000453513.2:p.Phe32ArgfsTer21
ENST00000558518.6:c.89_92dup MANE Select	ENSP00000454071.1:p.Phe32ArgfsTer21
ENST00000252444.9:c.343_346dup
ENST00000455727.6:c.89_92dup	ENSP00000397829.2:p.Phe32ArgfsTer21
ENST00000535915.5:c.89_92dup	ENSP00000440520.1:p.Phe32ArgfsTer21
ENST00000545707.5:c.89_92dup	ENSP00000437639.1:p.Phe32ArgfsTer21
ENST00000557933.5:c.89_92dup	ENSP00000453557.1:p.Phe32ArgfsTer21
ENST00000557958.1:n.175_178dup
ENST00000558013.5:c.89_92dup	ENSP00000453346.1:p.Phe32ArgfsTer21
ENST00000558518.5:c.89_92dup	ENSP00000454071.1:p.Phe32ArgfsTer21
ENST00000560502.5:n.175_178dup
NM_000527.4:c.89_92dup , LRG_274t1:c.89_92dup	NP_000518.1:p.Phe32ArgfsTer21
NM_001195798.1:c.89_92dup	NP_001182727.1:p.Phe32ArgfsTer21
NM_001195799.1:c.89_92dup	NP_001182728.1:p.Phe32ArgfsTer21
NM_001195800.1:c.89_92dup	NP_001182729.1:p.Phe32ArgfsTer21
NM_001195803.1:c.89_92dup	NP_001182732.1:p.Phe32ArgfsTer21
XM_011528010.1:c.89_92dup	XP_011526312.1:p.Phe32ArgfsTer21
XM_011528011.1:c.89_92dup	XP_011526313.1:p.Phe32ArgfsTer21
XR_244074.2:n.239_242dup
XM_011528010.2:c.89_92dup	XP_011526312.1:p.Phe32ArgfsTer21
XR_001753685.2:n.206_209dup
XR_001753686.2:n.206_209dup
NM_000527.5:c.89_92dup MANE Select	NP_000518.1:p.Phe32ArgfsTer21
NM_001195798.2:c.89_92dup	NP_001182727.1:p.Phe32ArgfsTer21
NM_001195799.2:c.89_92dup	NP_001182728.1:p.Phe32ArgfsTer21
NM_001195800.2:c.89_92dup	NP_001182729.1:p.Phe32ArgfsTer21
NM_001195803.2:c.89_92dup	NP_001182732.1:p.Phe32ArgfsTer21