Canonical Allele Identifier: CA2322767724

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105742_11105743delinsCT , CM000681.2:g.11105742_11105743delinsCT	GRCh38
NC_000019.9:g.11216418_11216419delinsCT , CM000681.1:g.11216418_11216419delinsCT	GRCh37
NC_000019.8:g.11077418_11077419delinsCT	NCBI36
NG_009060.1:g.21362_21363delinsCT , LRG_274:g.21362_21363delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+142_952+143delinsCT	ENSP00000252444.6:n.952+142_952+143delinsCT
ENST00000559340.2:c.694+142_694+143delinsCT	ENSP00000453696.2:n.694+142_694+143delinsCT
ENST00000560467.2:c.694+142_694+143delinsCT	ENSP00000453513.2:n.694+142_694+143delinsCT
ENST00000558518.6:c.694+142_694+143delinsCT MANE Select	ENSP00000454071.1:n.694+142_694+143delinsCT
ENST00000252444.9:c.948+142_948+143delinsCT
ENST00000455727.6:c.314-1650_314-1649delinsCT	ENSP00000397829.2:n.314-1650_314-1649delinsCT
ENST00000535915.5:c.571+142_571+143delinsCT	ENSP00000440520.1:n.571+142_571+143delinsCT
ENST00000545707.5:c.314-823_314-822delinsCT	ENSP00000437639.1:n.314-823_314-822delinsCT
ENST00000557933.5:c.694+142_694+143delinsCT	ENSP00000453557.1:n.694+142_694+143delinsCT
ENST00000558013.5:c.694+142_694+143delinsCT	ENSP00000453346.1:n.694+142_694+143delinsCT
ENST00000558518.5:c.694+142_694+143delinsCT	ENSP00000454071.1:n.694+142_694+143delinsCT
ENST00000560467.1:c.294+142_294+143delinsCT
NM_000527.4:c.694+142_694+143delinsCT , LRG_274t1:c.694+142_694+143delinsCT	NP_000518.1:n.694+142_694+143delinsCT
NM_001195798.1:c.694+142_694+143delinsCT	NP_001182727.1:n.694+142_694+143delinsCT
NM_001195799.1:c.571+142_571+143delinsCT	NP_001182728.1:n.571+142_571+143delinsCT
NM_001195800.1:c.314-1650_314-1649delinsCT	NP_001182729.1:n.314-1650_314-1649delinsCT
NM_001195803.1:c.314-823_314-822delinsCT	NP_001182732.1:n.314-823_314-822delinsCT
XM_011528010.1:c.694+142_694+143delinsCT	XP_011526312.1:n.694+142_694+143delinsCT
XM_011528011.1:c.314-823_314-822delinsCT	XP_011526313.1:n.314-823_314-822delinsCT
XR_244074.2:n.844+142_844+143delinsCT
XM_011528010.2:c.694+142_694+143delinsCT	XP_011526312.1:n.694+142_694+143delinsCT
XR_001753685.2:n.811+142_811+143delinsCT
XR_001753686.2:n.811+142_811+143delinsCT
NM_000527.5:c.694+142_694+143delinsCT MANE Select	NP_000518.1:n.694+142_694+143delinsCT
NM_001195798.2:c.694+142_694+143delinsCT	NP_001182727.1:n.694+142_694+143delinsCT
NM_001195799.2:c.571+142_571+143delinsCT	NP_001182728.1:n.571+142_571+143delinsCT
NM_001195800.2:c.314-1650_314-1649delinsCT	NP_001182729.1:n.314-1650_314-1649delinsCT
NM_001195803.2:c.314-823_314-822delinsCT	NP_001182732.1:n.314-823_314-822delinsCT