Canonical Allele Identifier: CA2322767276

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105226_11105239delinsAGACGTGCTCCCAG , CM000681.2:g.11105226_11105239delinsAGACGTGCTCCCAG	GRCh38
NC_000019.9:g.11215902_11215915delinsAGACGTGCTCCCAG , CM000681.1:g.11215902_11215915delinsAGACGTGCTCCCAG	GRCh37
NC_000019.8:g.11076902_11076915delinsAGACGTGCTCCCAG	NCBI36
NG_009060.1:g.20846_20859delinsAGACGTGCTCCCAG , LRG_274:g.20846_20859delinsAGACGTGCTCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.578_591delinsAGACGTGCTCCCAG	ENSP00000252444.6:p.Lys193=
ENST00000559340.2:c.320_333delinsAGACGTGCTCCCAG	ENSP00000453696.2:p.Lys107=
ENST00000560467.2:c.320_333delinsAGACGTGCTCCCAG	ENSP00000453513.2:p.Lys107=
ENST00000558518.6:c.320_333delinsAGACGTGCTCCCAG MANE Select	ENSP00000454071.1:p.Lys107=
ENST00000252444.9:c.574_587delinsAGACGTGCTCCCAG
ENST00000455727.6:c.314-2166_314-2153delinsAGACGTGCTCCCAG	ENSP00000397829.2:n.314-2166_314-2153delinsAGACGTGCTCCCAG
ENST00000535915.5:c.197_210delinsAGACGTGCTCCCAG	ENSP00000440520.1:p.Lys66=
ENST00000545707.5:c.314-1339_314-1326delinsAGACGTGCTCCCAG	ENSP00000437639.1:n.314-1339_314-1326delinsAGACGTGCTCCCAG
ENST00000557933.5:c.320_333delinsAGACGTGCTCCCAG	ENSP00000453557.1:p.Lys107=
ENST00000558013.5:c.320_333delinsAGACGTGCTCCCAG	ENSP00000453346.1:p.Lys107=
ENST00000558518.5:c.320_333delinsAGACGTGCTCCCAG	ENSP00000454071.1:p.Lys107=
NM_000527.4:c.320_333delinsAGACGTGCTCCCAG , LRG_274t1:c.320_333delinsAGACGTGCTCCCAG	NP_000518.1:p.Lys107=
NM_001195798.1:c.320_333delinsAGACGTGCTCCCAG	NP_001182727.1:p.Lys107=
NM_001195799.1:c.197_210delinsAGACGTGCTCCCAG	NP_001182728.1:p.Lys66=
NM_001195800.1:c.314-2166_314-2153delinsAGACGTGCTCCCAG	NP_001182729.1:n.314-2166_314-2153delinsAGACGTGCTCCCAG
NM_001195803.1:c.314-1339_314-1326delinsAGACGTGCTCCCAG	NP_001182732.1:n.314-1339_314-1326delinsAGACGTGCTCCCAG
XM_011528010.1:c.320_333delinsAGACGTGCTCCCAG	XP_011526312.1:p.Lys107=
XM_011528011.1:c.314-1339_314-1326delinsAGACGTGCTCCCAG	XP_011526313.1:n.314-1339_314-1326delinsAGACGTGCTCCCAG
XR_244074.2:n.470_483delinsAGACGTGCTCCCAG
XM_011528010.2:c.320_333delinsAGACGTGCTCCCAG	XP_011526312.1:p.Lys107=
XR_001753685.2:n.437_450delinsAGACGTGCTCCCAG
XR_001753686.2:n.437_450delinsAGACGTGCTCCCAG
NM_000527.5:c.320_333delinsAGACGTGCTCCCAG MANE Select	NP_000518.1:p.Lys107=
NM_001195798.2:c.320_333delinsAGACGTGCTCCCAG	NP_001182727.1:p.Lys107=
NM_001195799.2:c.197_210delinsAGACGTGCTCCCAG	NP_001182728.1:p.Lys66=
NM_001195800.2:c.314-2166_314-2153delinsAGACGTGCTCCCAG	NP_001182729.1:n.314-2166_314-2153delinsAGACGTGCTCCCAG
NM_001195803.2:c.314-1339_314-1326delinsAGACGTGCTCCCAG	NP_001182732.1:n.314-1339_314-1326delinsAGACGTGCTCCCAG