Canonical Allele Identifier: CA2322767813

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105920_11105932delinsGTTGTTTTTGTTT , CM000681.2:g.11105920_11105932delinsGTTGTTTTTGTTT	GRCh38
NC_000019.9:g.11216596_11216608delinsGTTGTTTTTGTTT , CM000681.1:g.11216596_11216608delinsGTTGTTTTTGTTT	GRCh37
NC_000019.8:g.11077596_11077608delinsGTTGTTTTTGTTT	NCBI36
NG_009060.1:g.21540_21552delinsGTTGTTTTTGTTT , LRG_274:g.21540_21552delinsGTTGTTTTTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+320_952+332delinsGTTGTTTTTGTTT	ENSP00000252444.6:n.952+320_952+332delinsGTTGTTTTTGTTT
ENST00000559340.2:c.694+320_694+332delinsGTTGTTTTTGTTT	ENSP00000453696.2:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000560467.2:c.694+320_694+332delinsGTTGTTTTTGTTT	ENSP00000453513.2:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000558518.6:c.694+320_694+332delinsGTTGTTTTTGTTT MANE Select	ENSP00000454071.1:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000252444.9:c.948+320_948+332delinsGTTGTTTTTGTTT
ENST00000455727.6:c.314-1472_314-1460delinsGTTGTTTTTGTTT	ENSP00000397829.2:n.314-1472_314-1460delinsGTTGTTTTTGTTT
ENST00000535915.5:c.571+320_571+332delinsGTTGTTTTTGTTT	ENSP00000440520.1:n.571+320_571+332delinsGTTGTTTTTGTTT
ENST00000545707.5:c.314-645_314-633delinsGTTGTTTTTGTTT	ENSP00000437639.1:n.314-645_314-633delinsGTTGTTTTTGTTT
ENST00000557933.5:c.694+320_694+332delinsGTTGTTTTTGTTT	ENSP00000453557.1:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000558013.5:c.694+320_694+332delinsGTTGTTTTTGTTT	ENSP00000453346.1:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000558518.5:c.694+320_694+332delinsGTTGTTTTTGTTT	ENSP00000454071.1:n.694+320_694+332delinsGTTGTTTTTGTTT
ENST00000560467.1:c.294+320_294+332delinsGTTGTTTTTGTTT
NM_000527.4:c.694+320_694+332delinsGTTGTTTTTGTTT , LRG_274t1:c.694+320_694+332delinsGTTGTTTTTGTTT	NP_000518.1:n.694+320_694+332delinsGTTGTTTTTGTTT
NM_001195798.1:c.694+320_694+332delinsGTTGTTTTTGTTT	NP_001182727.1:n.694+320_694+332delinsGTTGTTTTTGTTT
NM_001195799.1:c.571+320_571+332delinsGTTGTTTTTGTTT	NP_001182728.1:n.571+320_571+332delinsGTTGTTTTTGTTT
NM_001195800.1:c.314-1472_314-1460delinsGTTGTTTTTGTTT	NP_001182729.1:n.314-1472_314-1460delinsGTTGTTTTTGTTT
NM_001195803.1:c.314-645_314-633delinsGTTGTTTTTGTTT	NP_001182732.1:n.314-645_314-633delinsGTTGTTTTTGTTT
XM_011528010.1:c.694+320_694+332delinsGTTGTTTTTGTTT	XP_011526312.1:n.694+320_694+332delinsGTTGTTTTTGTTT
XM_011528011.1:c.314-645_314-633delinsGTTGTTTTTGTTT	XP_011526313.1:n.314-645_314-633delinsGTTGTTTTTGTTT
XR_244074.2:n.844+320_844+332delinsGTTGTTTTTGTTT
XM_011528010.2:c.694+320_694+332delinsGTTGTTTTTGTTT	XP_011526312.1:n.694+320_694+332delinsGTTGTTTTTGTTT
XR_001753685.2:n.811+320_811+332delinsGTTGTTTTTGTTT
XR_001753686.2:n.811+320_811+332delinsGTTGTTTTTGTTT
NM_000527.5:c.694+320_694+332delinsGTTGTTTTTGTTT MANE Select	NP_000518.1:n.694+320_694+332delinsGTTGTTTTTGTTT
NM_001195798.2:c.694+320_694+332delinsGTTGTTTTTGTTT	NP_001182727.1:n.694+320_694+332delinsGTTGTTTTTGTTT
NM_001195799.2:c.571+320_571+332delinsGTTGTTTTTGTTT	NP_001182728.1:n.571+320_571+332delinsGTTGTTTTTGTTT
NM_001195800.2:c.314-1472_314-1460delinsGTTGTTTTTGTTT	NP_001182729.1:n.314-1472_314-1460delinsGTTGTTTTTGTTT
NM_001195803.2:c.314-645_314-633delinsGTTGTTTTTGTTT	NP_001182732.1:n.314-645_314-633delinsGTTGTTTTTGTTT