Canonical Allele Identifier: CA2840305519

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105566dup , CM000681.2:g.11105566dup	GRCh38
NC_000019.9:g.11216242dup , CM000681.1:g.11216242dup	GRCh37
NC_000019.8:g.11077242dup	NCBI36
NG_009060.1:g.21186dup , LRG_274:g.21186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.918dup	ENSP00000252444.6:p.Asp307ArgfsTer7
ENST00000559340.2:c.660dup	ENSP00000453696.2:p.Asp221ArgfsTer7
ENST00000560467.2:c.660dup	ENSP00000453513.2:p.Asp221ArgfsTer7
ENST00000558518.6:c.660dup MANE Select	ENSP00000454071.1:p.Asp221ArgfsTer7
ENST00000252444.9:c.914dup
ENST00000455727.6:c.314-1826dup	ENSP00000397829.2:n.314-1826dup
ENST00000535915.5:c.537dup	ENSP00000440520.1:p.Asp180ArgfsTer7
ENST00000545707.5:c.314-999dup	ENSP00000437639.1:n.314-999dup
ENST00000557933.5:c.660dup	ENSP00000453557.1:p.Asp221ArgfsTer7
ENST00000558013.5:c.660dup	ENSP00000453346.1:p.Asp221ArgfsTer7
ENST00000558518.5:c.660dup	ENSP00000454071.1:p.Asp221ArgfsTer7
ENST00000560467.1:c.260dup
NM_000527.4:c.660dup , LRG_274t1:c.660dup	NP_000518.1:p.Asp221ArgfsTer7
NM_001195798.1:c.660dup	NP_001182727.1:p.Asp221ArgfsTer7
NM_001195799.1:c.537dup	NP_001182728.1:p.Asp180ArgfsTer7
NM_001195800.1:c.314-1826dup	NP_001182729.1:n.314-1826dup
NM_001195803.1:c.314-999dup	NP_001182732.1:n.314-999dup
XM_011528010.1:c.660dup	XP_011526312.1:p.Asp221ArgfsTer7
XM_011528011.1:c.314-999dup	XP_011526313.1:n.314-999dup
XR_244074.2:n.810dup
XM_011528010.2:c.660dup	XP_011526312.1:p.Asp221ArgfsTer7
XR_001753685.2:n.777dup
XR_001753686.2:n.777dup
NM_000527.5:c.660dup MANE Select	NP_000518.1:p.Asp221ArgfsTer7
NM_001195798.2:c.660dup	NP_001182727.1:p.Asp221ArgfsTer7
NM_001195799.2:c.537dup	NP_001182728.1:p.Asp180ArgfsTer7
NM_001195800.2:c.314-1826dup	NP_001182729.1:n.314-1826dup
NM_001195803.2:c.314-999dup	NP_001182732.1:n.314-999dup