Canonical Allele Identifier: CA2840305500

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102745dup , CM000681.2:g.11102745dup	GRCh38
NC_000019.9:g.11213421dup , CM000681.1:g.11213421dup	GRCh37
NC_000019.8:g.11074421dup	NCBI36
NG_009060.1:g.18365dup , LRG_274:g.18365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.530dup	ENSP00000252444.6:p.Gln178ProfsTer?
ENST00000559340.2:c.272dup	ENSP00000453696.2:p.Gln92ProfsTer?
ENST00000560467.2:c.272dup	ENSP00000453513.2:p.Gln92ProfsTer?
ENST00000558518.6:c.272dup MANE Select	ENSP00000454071.1:p.Gln92ProfsTer?
ENST00000252444.9:c.526dup
ENST00000455727.6:c.272dup	ENSP00000397829.2:p.Gln92ProfsTer?
ENST00000535915.5:c.190+2400dup	ENSP00000440520.1:n.190+2400dup
ENST00000545707.5:c.272dup	ENSP00000437639.1:p.Gln92ProfsTer21
ENST00000557933.5:c.272dup	ENSP00000453557.1:p.Gln92ProfsTer?
ENST00000557958.1:n.358dup
ENST00000558013.5:c.272dup	ENSP00000453346.1:p.Gln92ProfsTer?
ENST00000558518.5:c.272dup	ENSP00000454071.1:p.Gln92ProfsTer?
NM_000527.4:c.272dup , LRG_274t1:c.272dup	NP_000518.1:p.Gln92ProfsTer?
NM_001195798.1:c.272dup	NP_001182727.1:p.Gln92ProfsTer?
NM_001195799.1:c.190+2400dup	NP_001182728.1:n.190+2400dup
NM_001195800.1:c.272dup	NP_001182729.1:p.Gln92ProfsTer?
NM_001195803.1:c.272dup	NP_001182732.1:p.Gln92ProfsTer21
XM_011528010.1:c.272dup	XP_011526312.1:p.Gln92ProfsTer?
XM_011528011.1:c.272dup	XP_011526313.1:p.Gln92ProfsTer21
XR_244074.2:n.422dup
XM_011528010.2:c.272dup	XP_011526312.1:p.Gln92ProfsTer?
XR_001753685.2:n.389dup
XR_001753686.2:n.389dup
NM_000527.5:c.272dup MANE Select	NP_000518.1:p.Gln92ProfsTer?
NM_001195798.2:c.272dup	NP_001182727.1:p.Gln92ProfsTer?
NM_001195799.2:c.190+2400dup	NP_001182728.1:n.190+2400dup
NM_001195800.2:c.272dup	NP_001182729.1:p.Gln92ProfsTer?
NM_001195803.2:c.272dup	NP_001182732.1:p.Gln92ProfsTer21