Canonical Allele Identifier: CA2322765975

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102665_11102674delinsGTCTGTCACC , CM000681.2:g.11102665_11102674delinsGTCTGTCACC	GRCh38
NC_000019.9:g.11213341_11213350delinsGTCTGTCACC , CM000681.1:g.11213341_11213350delinsGTCTGTCACC	GRCh37
NC_000019.8:g.11074341_11074350delinsGTCTGTCACC	NCBI36
NG_009060.1:g.18285_18294delinsGTCTGTCACC , LRG_274:g.18285_18294delinsGTCTGTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.450_459delinsGTCTGTCACC	ENSP00000252444.6:p.Leu150=
ENST00000559340.2:c.192_201delinsGTCTGTCACC	ENSP00000453696.2:p.Leu64=
ENST00000560467.2:c.192_201delinsGTCTGTCACC	ENSP00000453513.2:p.Leu64=
ENST00000558518.6:c.192_201delinsGTCTGTCACC MANE Select	ENSP00000454071.1:p.Leu64=
ENST00000252444.9:c.446_455delinsGTCTGTCACC
ENST00000455727.6:c.192_201delinsGTCTGTCACC	ENSP00000397829.2:p.Leu64=
ENST00000535915.5:c.190+2320_190+2329delinsGTCTGTCACC	ENSP00000440520.1:n.190+2320_190+2329delinsGTCTGTCACC
ENST00000545707.5:c.192_201delinsGTCTGTCACC	ENSP00000437639.1:p.Leu64=
ENST00000557933.5:c.192_201delinsGTCTGTCACC	ENSP00000453557.1:p.Leu64=
ENST00000557958.1:n.278_287delinsGTCTGTCACC
ENST00000558013.5:c.192_201delinsGTCTGTCACC	ENSP00000453346.1:p.Leu64=
ENST00000558518.5:c.192_201delinsGTCTGTCACC	ENSP00000454071.1:p.Leu64=
NM_000527.4:c.192_201delinsGTCTGTCACC , LRG_274t1:c.192_201delinsGTCTGTCACC	NP_000518.1:p.Leu64=
NM_001195798.1:c.192_201delinsGTCTGTCACC	NP_001182727.1:p.Leu64=
NM_001195799.1:c.190+2320_190+2329delinsGTCTGTCACC	NP_001182728.1:n.190+2320_190+2329delinsGTCTGTCACC
NM_001195800.1:c.192_201delinsGTCTGTCACC	NP_001182729.1:p.Leu64=
NM_001195803.1:c.192_201delinsGTCTGTCACC	NP_001182732.1:p.Leu64=
XM_011528010.1:c.192_201delinsGTCTGTCACC	XP_011526312.1:p.Leu64=
XM_011528011.1:c.192_201delinsGTCTGTCACC	XP_011526313.1:p.Leu64=
XR_244074.2:n.342_351delinsGTCTGTCACC
XM_011528010.2:c.192_201delinsGTCTGTCACC	XP_011526312.1:p.Leu64=
XR_001753685.2:n.309_318delinsGTCTGTCACC
XR_001753686.2:n.309_318delinsGTCTGTCACC
NM_000527.5:c.192_201delinsGTCTGTCACC MANE Select	NP_000518.1:p.Leu64=
NM_001195798.2:c.192_201delinsGTCTGTCACC	NP_001182727.1:p.Leu64=
NM_001195799.2:c.190+2320_190+2329delinsGTCTGTCACC	NP_001182728.1:n.190+2320_190+2329delinsGTCTGTCACC
NM_001195800.2:c.192_201delinsGTCTGTCACC	NP_001182729.1:p.Leu64=
NM_001195803.2:c.192_201delinsGTCTGTCACC	NP_001182732.1:p.Leu64=