Canonical Allele Identifier: CA2322767630

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105586_11105598delinsACGAGGAAAACTG , CM000681.2:g.11105586_11105598delinsACGAGGAAAACTG	GRCh38
NC_000019.9:g.11216262_11216274delinsACGAGGAAAACTG , CM000681.1:g.11216262_11216274delinsACGAGGAAAACTG	GRCh37
NC_000019.8:g.11077262_11077274delinsACGAGGAAAACTG	NCBI36
NG_009060.1:g.21206_21218delinsACGAGGAAAACTG , LRG_274:g.21206_21218delinsACGAGGAAAACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.938_950delinsACGAGGAAAACTG	ENSP00000252444.6:p.Asp313=
ENST00000559340.2:c.680_692delinsACGAGGAAAACTG	ENSP00000453696.2:p.Asp227=
ENST00000560467.2:c.680_692delinsACGAGGAAAACTG	ENSP00000453513.2:p.Asp227=
ENST00000558518.6:c.680_692delinsACGAGGAAAACTG MANE Select	ENSP00000454071.1:p.Asp227=
ENST00000252444.9:c.934_946delinsACGAGGAAAACTG
ENST00000455727.6:c.314-1806_314-1794delinsACGAGGAAAACTG	ENSP00000397829.2:n.314-1806_314-1794delinsACGAGGAAAACTG
ENST00000535915.5:c.557_569delinsACGAGGAAAACTG	ENSP00000440520.1:p.Asp186=
ENST00000545707.5:c.314-979_314-967delinsACGAGGAAAACTG	ENSP00000437639.1:n.314-979_314-967delinsACGAGGAAAACTG
ENST00000557933.5:c.680_692delinsACGAGGAAAACTG	ENSP00000453557.1:p.Asp227=
ENST00000558013.5:c.680_692delinsACGAGGAAAACTG	ENSP00000453346.1:p.Asp227=
ENST00000558518.5:c.680_692delinsACGAGGAAAACTG	ENSP00000454071.1:p.Asp227=
ENST00000560467.1:c.280_292delinsACGAGGAAAACTG
NM_000527.4:c.680_692delinsACGAGGAAAACTG , LRG_274t1:c.680_692delinsACGAGGAAAACTG	NP_000518.1:p.Asp227=
NM_001195798.1:c.680_692delinsACGAGGAAAACTG	NP_001182727.1:p.Asp227=
NM_001195799.1:c.557_569delinsACGAGGAAAACTG	NP_001182728.1:p.Asp186=
NM_001195800.1:c.314-1806_314-1794delinsACGAGGAAAACTG	NP_001182729.1:n.314-1806_314-1794delinsACGAGGAAAACTG
NM_001195803.1:c.314-979_314-967delinsACGAGGAAAACTG	NP_001182732.1:n.314-979_314-967delinsACGAGGAAAACTG
XM_011528010.1:c.680_692delinsACGAGGAAAACTG	XP_011526312.1:p.Asp227=
XM_011528011.1:c.314-979_314-967delinsACGAGGAAAACTG	XP_011526313.1:n.314-979_314-967delinsACGAGGAAAACTG
XR_244074.2:n.830_842delinsACGAGGAAAACTG
XM_011528010.2:c.680_692delinsACGAGGAAAACTG	XP_011526312.1:p.Asp227=
XR_001753685.2:n.797_809delinsACGAGGAAAACTG
XR_001753686.2:n.797_809delinsACGAGGAAAACTG
NM_000527.5:c.680_692delinsACGAGGAAAACTG MANE Select	NP_000518.1:p.Asp227=
NM_001195798.2:c.680_692delinsACGAGGAAAACTG	NP_001182727.1:p.Asp227=
NM_001195799.2:c.557_569delinsACGAGGAAAACTG	NP_001182728.1:p.Asp186=
NM_001195800.2:c.314-1806_314-1794delinsACGAGGAAAACTG	NP_001182729.1:n.314-1806_314-1794delinsACGAGGAAAACTG
NM_001195803.2:c.314-979_314-967delinsACGAGGAAAACTG	NP_001182732.1:n.314-979_314-967delinsACGAGGAAAACTG