Canonical Allele Identifier: CA2322767294

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105250_11105271delinsGCTGCCACGATGGGAAGTGCAT , CM000681.2:g.11105250_11105271delinsGCTGCCACGATGGGAAGTGCAT	GRCh38
NC_000019.9:g.11215926_11215947delinsGCTGCCACGATGGGAAGTGCAT , CM000681.1:g.11215926_11215947delinsGCTGCCACGATGGGAAGTGCAT	GRCh37
NC_000019.8:g.11076926_11076947delinsGCTGCCACGATGGGAAGTGCAT	NCBI36
NG_009060.1:g.20870_20891delinsGCTGCCACGATGGGAAGTGCAT , LRG_274:g.20870_20891delinsGCTGCCACGATGGGAAGTGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.602_623delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000252444.6:p.Arg201=
ENST00000559340.2:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000453696.2:p.Arg115=
ENST00000560467.2:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000453513.2:p.Arg115=
ENST00000558518.6:c.344_365delinsGCTGCCACGATGGGAAGTGCAT MANE Select	ENSP00000454071.1:p.Arg115=
ENST00000252444.9:c.598_619delinsGCTGCCACGATGGGAAGTGCAT
ENST00000455727.6:c.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000397829.2:n.314-2142_314-2121delinsGCTGCCACGATGGGAAGT...
ENST00000535915.5:c.221_242delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000440520.1:p.Arg74=
ENST00000545707.5:c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000437639.1:n.314-1315_314-1294delinsGCTGCCACGATGGGAAGT...
ENST00000557933.5:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000453557.1:p.Arg115=
ENST00000558013.5:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000453346.1:p.Arg115=
ENST00000558518.5:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	ENSP00000454071.1:p.Arg115=
NM_000527.4:c.344_365delinsGCTGCCACGATGGGAAGTGCAT , LRG_274t1:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	NP_000518.1:p.Arg115=
NM_001195798.1:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	NP_001182727.1:p.Arg115=
NM_001195799.1:c.221_242delinsGCTGCCACGATGGGAAGTGCAT	NP_001182728.1:p.Arg74=
NM_001195800.1:c.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT	NP_001182729.1:n.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCA...
NM_001195803.1:c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT	NP_001182732.1:n.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCA...
XM_011528010.1:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	XP_011526312.1:p.Arg115=
XM_011528011.1:c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT	XP_011526313.1:n.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCA...
XR_244074.2:n.494_515delinsGCTGCCACGATGGGAAGTGCAT
XM_011528010.2:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	XP_011526312.1:p.Arg115=
XR_001753685.2:n.461_482delinsGCTGCCACGATGGGAAGTGCAT
XR_001753686.2:n.461_482delinsGCTGCCACGATGGGAAGTGCAT
NM_000527.5:c.344_365delinsGCTGCCACGATGGGAAGTGCAT MANE Select	NP_000518.1:p.Arg115=
NM_001195798.2:c.344_365delinsGCTGCCACGATGGGAAGTGCAT	NP_001182727.1:p.Arg115=
NM_001195799.2:c.221_242delinsGCTGCCACGATGGGAAGTGCAT	NP_001182728.1:p.Arg74=
NM_001195800.2:c.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT	NP_001182729.1:n.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCA...
NM_001195803.2:c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT	NP_001182732.1:n.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCA...