Canonical Allele Identifier: CA2322771890

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113554_11113578delinsCACGGCGTCTCTTCCTATGACACCG , CM000681.2:g.11113554_11113578delinsCACGGCGTCTCTTCCTATGACACCG	GRCh38
NC_000019.9:g.11224230_11224254delinsCACGGCGTCTCTTCCTATGACACCG , CM000681.1:g.11224230_11224254delinsCACGGCGTCTCTTCCTATGACACCG	GRCh37
NC_000019.8:g.11085230_11085254delinsCACGGCGTCTCTTCCTATGACACCG	NCBI36
NG_009060.1:g.29174_29198delinsCACGGCGTCTCTTCCTATGACACCG , LRG_274:g.29174_29198delinsCACGGCGTCTCTTCCTATGACACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1636_1660delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000252444.6:p.His546=
ENST00000559340.2:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000453696.2:p.His460=
ENST00000560467.2:c.1258_1282delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000453513.2:p.His420=
ENST00000558518.6:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG MANE Select	ENSP00000454071.1:p.His460=
ENST00000252444.9:c.1632_1656delinsCACGGCGTCTCTTCCTATGACACCG
ENST00000455727.6:c.874_898delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000397829.2:p.His292=
ENST00000535915.5:c.1255_1279delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000440520.1:p.His419=
ENST00000545707.5:c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000437639.1:p.His333=
ENST00000557933.5:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000453557.1:p.His460=
ENST00000558013.5:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000453346.1:p.His460=
ENST00000558518.5:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	ENSP00000454071.1:p.His460=
ENST00000559340.1:c.99_123delinsCACGGCGTCTCTTCCTATGACACCG
ENST00000560467.1:c.858_882delinsCACGGCGTCTCTTCCTATGACACCG
NM_000527.4:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG , LRG_274t1:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	NP_000518.1:p.His460=
NM_001195798.1:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182727.1:p.His460=
NM_001195799.1:c.1255_1279delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182728.1:p.His419=
NM_001195800.1:c.874_898delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182729.1:p.His292=
NM_001195803.1:c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182732.1:p.His333=
XM_011528010.1:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	XP_011526312.1:p.His460=
XM_011528011.1:c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG	XP_011526313.1:p.His333=
XR_244074.2:n.1528_1552delinsCACGGCGTCTCTTCCTATGACACCG
XM_011528010.2:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	XP_011526312.1:p.His460=
XR_001753685.2:n.1495_1519delinsCACGGCGTCTCTTCCTATGACACCG
XR_001753686.2:n.1495_1519delinsCACGGCGTCTCTTCCTATGACACCG
NM_000527.5:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG MANE Select	NP_000518.1:p.His460=
NM_001195798.2:c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182727.1:p.His460=
NM_001195799.2:c.1255_1279delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182728.1:p.His419=
NM_001195800.2:c.874_898delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182729.1:p.His292=
NM_001195803.2:c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG	NP_001182732.1:p.His333=