Canonical Allele Identifier: CA2322767453

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105423_11105437delinsTGCGAAGATGGCTCG , CM000681.2:g.11105423_11105437delinsTGCGAAGATGGCTCG	GRCh38
NC_000019.9:g.11216099_11216113delinsTGCGAAGATGGCTCG , CM000681.1:g.11216099_11216113delinsTGCGAAGATGGCTCG	GRCh37
NC_000019.8:g.11077099_11077113delinsTGCGAAGATGGCTCG	NCBI36
NG_009060.1:g.21043_21057delinsTGCGAAGATGGCTCG , LRG_274:g.21043_21057delinsTGCGAAGATGGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.775_789delinsTGCGAAGATGGCTCG	ENSP00000252444.6:p.Cys259=
ENST00000559340.2:c.517_531delinsTGCGAAGATGGCTCG	ENSP00000453696.2:p.Cys173=
ENST00000560467.2:c.517_531delinsTGCGAAGATGGCTCG	ENSP00000453513.2:p.Cys173=
ENST00000558518.6:c.517_531delinsTGCGAAGATGGCTCG MANE Select	ENSP00000454071.1:p.Cys173=
ENST00000252444.9:c.771_785delinsTGCGAAGATGGCTCG
ENST00000455727.6:c.314-1969_314-1955delinsTGCGAAGATGGCTCG	ENSP00000397829.2:n.314-1969_314-1955delinsTGCGAAGATGGCTCG
ENST00000535915.5:c.394_408delinsTGCGAAGATGGCTCG	ENSP00000440520.1:p.Cys132=
ENST00000545707.5:c.314-1142_314-1128delinsTGCGAAGATGGCTCG	ENSP00000437639.1:n.314-1142_314-1128delinsTGCGAAGATGGCTCG
ENST00000557933.5:c.517_531delinsTGCGAAGATGGCTCG	ENSP00000453557.1:p.Cys173=
ENST00000558013.5:c.517_531delinsTGCGAAGATGGCTCG	ENSP00000453346.1:p.Cys173=
ENST00000558518.5:c.517_531delinsTGCGAAGATGGCTCG	ENSP00000454071.1:p.Cys173=
ENST00000560467.1:c.117_131delinsTGCGAAGATGGCTCG
NM_000527.4:c.517_531delinsTGCGAAGATGGCTCG , LRG_274t1:c.517_531delinsTGCGAAGATGGCTCG	NP_000518.1:p.Cys173=
NM_001195798.1:c.517_531delinsTGCGAAGATGGCTCG	NP_001182727.1:p.Cys173=
NM_001195799.1:c.394_408delinsTGCGAAGATGGCTCG	NP_001182728.1:p.Cys132=
NM_001195800.1:c.314-1969_314-1955delinsTGCGAAGATGGCTCG	NP_001182729.1:n.314-1969_314-1955delinsTGCGAAGATGGCTCG
NM_001195803.1:c.314-1142_314-1128delinsTGCGAAGATGGCTCG	NP_001182732.1:n.314-1142_314-1128delinsTGCGAAGATGGCTCG
XM_011528010.1:c.517_531delinsTGCGAAGATGGCTCG	XP_011526312.1:p.Cys173=
XM_011528011.1:c.314-1142_314-1128delinsTGCGAAGATGGCTCG	XP_011526313.1:n.314-1142_314-1128delinsTGCGAAGATGGCTCG
XR_244074.2:n.667_681delinsTGCGAAGATGGCTCG
XM_011528010.2:c.517_531delinsTGCGAAGATGGCTCG	XP_011526312.1:p.Cys173=
XR_001753685.2:n.634_648delinsTGCGAAGATGGCTCG
XR_001753686.2:n.634_648delinsTGCGAAGATGGCTCG
NM_000527.5:c.517_531delinsTGCGAAGATGGCTCG MANE Select	NP_000518.1:p.Cys173=
NM_001195798.2:c.517_531delinsTGCGAAGATGGCTCG	NP_001182727.1:p.Cys173=
NM_001195799.2:c.394_408delinsTGCGAAGATGGCTCG	NP_001182728.1:p.Cys132=
NM_001195800.2:c.314-1969_314-1955delinsTGCGAAGATGGCTCG	NP_001182729.1:n.314-1969_314-1955delinsTGCGAAGATGGCTCG
NM_001195803.2:c.314-1142_314-1128delinsTGCGAAGATGGCTCG	NP_001182732.1:n.314-1142_314-1128delinsTGCGAAGATGGCTCG