Canonical Allele Identifier: CA2840392049

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123303dup , CM000681.2:g.11123303dup	GRCh38
NC_000019.9:g.11233979dup , CM000681.1:g.11233979dup	GRCh37
NC_000019.8:g.11094979dup	NCBI36
NG_009060.1:g.38923dup , LRG_274:g.38923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2528dup	ENSP00000252444.6:p.Gly844TrpfsTer24
ENST00000559340.2:c.*339dup	ENSP00000453696.2:n.*339dup
ENST00000560467.2:c.2150dup	ENSP00000453513.2:p.Gly718TrpfsTer24
ENST00000558518.6:c.2270dup MANE Select	ENSP00000454071.1:p.Gly758TrpfsTer24
ENST00000252444.9:c.2524dup
ENST00000455727.6:c.1766dup	ENSP00000397829.2:p.Gly590TrpfsTer24
ENST00000535915.5:c.2147dup	ENSP00000440520.1:p.Gly717TrpfsTer24
ENST00000545707.5:c.1736dup	ENSP00000437639.1:p.Gly580TrpfsTer24
ENST00000557933.5:c.2270dup	ENSP00000453557.1:p.Gly758TrpfsTer24
ENST00000558013.5:c.2270dup	ENSP00000453346.1:p.Gly758TrpfsTer24
ENST00000558518.5:c.2270dup	ENSP00000454071.1:p.Gly758TrpfsTer24
NM_000527.4:c.2270dup , LRG_274t1:c.2270dup	NP_000518.1:p.Gly758TrpfsTer24
NM_001195798.1:c.2270dup	NP_001182727.1:p.Gly758TrpfsTer24
NM_001195799.1:c.2147dup	NP_001182728.1:p.Gly717TrpfsTer24
NM_001195800.1:c.1766dup	NP_001182729.1:p.Gly590TrpfsTer24
NM_001195803.1:c.1736dup	NP_001182732.1:p.Gly580TrpfsTer24
XM_011528010.1:c.2270dup	XP_011526312.1:p.Gly758TrpfsTer?
XM_011528011.1:c.1889dup	XP_011526313.1:p.Gly631TrpfsTer24
XR_244074.2:n.2280dup
XM_011528010.2:c.2270dup	XP_011526312.1:p.Gly758TrpfsTer?
XR_001753685.2:n.2604dup
XR_001753686.2:n.2247dup
NM_000527.5:c.2270dup MANE Select	NP_000518.1:p.Gly758TrpfsTer24
NM_001195798.2:c.2270dup	NP_001182727.1:p.Gly758TrpfsTer24
NM_001195799.2:c.2147dup	NP_001182728.1:p.Gly717TrpfsTer24
NM_001195800.2:c.1766dup	NP_001182729.1:p.Gly590TrpfsTer24
NM_001195803.2:c.1736dup	NP_001182732.1:p.Gly580TrpfsTer24