Canonical Allele Identifier: CA2322779549

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128063_11128070delinsTCTGTCCA , CM000681.2:g.11128063_11128070delinsTCTGTCCA	GRCh38
NC_000019.9:g.11238739_11238746delinsTCTGTCCA , CM000681.1:g.11238739_11238746delinsTCTGTCCA	GRCh37
NC_000019.8:g.11099739_11099746delinsTCTGTCCA	NCBI36
NG_009060.1:g.43683_43690delinsTCTGTCCA , LRG_274:g.43683_43690delinsTCTGTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2625_2632delinsTCTGTCCA	ENSP00000252444.6:p.Ala875=
ENST00000559340.2:c.*436_*443delinsTCTGTCCA	ENSP00000453696.2:n.*436_*443delinsTCTGTC...
ENST00000560467.2:c.2247_2254delinsTCTGTCCA	ENSP00000453513.2:p.Ala749=
ENST00000558518.6:c.2367_2374delinsTCTGTCCA MANE Select	ENSP00000454071.1:p.Ala789=
ENST00000252444.9:c.2621_2628delinsTCTGTCCA
ENST00000455727.6:c.1863_1870delinsTCTGTCCA	ENSP00000397829.2:p.Ala621=
ENST00000535915.5:c.2244_2251delinsTCTGTCCA	ENSP00000440520.1:p.Ala748=
ENST00000545707.5:c.1833_1840delinsTCTGTCCA	ENSP00000437639.1:p.Ala611=
ENST00000557933.5:c.2367_2374delinsTCTGTCCA	ENSP00000453557.1:p.Ala789=
ENST00000558013.5:c.2367_2374delinsTCTGTCCA	ENSP00000453346.1:p.Ala789=
ENST00000558518.5:c.2367_2374delinsTCTGTCCA	ENSP00000454071.1:p.Ala789=
ENST00000560628.1:n.108+409_108+416delinsTCTGTCCA
NM_000527.4:c.2367_2374delinsTCTGTCCA , LRG_274t1:c.2367_2374delinsTCTGTCCA	NP_000518.1:p.Ala789=
NM_001195798.1:c.2367_2374delinsTCTGTCCA	NP_001182727.1:p.Ala789=
NM_001195799.1:c.2244_2251delinsTCTGTCCA	NP_001182728.1:p.Ala748=
NM_001195800.1:c.1863_1870delinsTCTGTCCA	NP_001182729.1:p.Ala621=
NM_001195803.1:c.1833_1840delinsTCTGTCCA	NP_001182732.1:p.Ala611=
XM_011528010.1:c.2312-1450_2312-1443delinsTCTGTCCA	XP_011526312.1:n.2312-1450_2312-1443delin...
XM_011528011.1:c.1986_1993delinsTCTGTCCA	XP_011526313.1:p.Ala662=
XR_244074.2:n.2377_2384delinsTCTGTCCA
XM_011528010.2:c.2312-1450_2312-1443delinsTCTGTCCA	XP_011526312.1:n.2312-1450_2312-1443delin...
XR_001753685.2:n.2701_2708delinsTCTGTCCA
XR_001753686.2:n.2344_2351delinsTCTGTCCA
NM_000527.5:c.2367_2374delinsTCTGTCCA MANE Select	NP_000518.1:p.Ala789=
NM_001195798.2:c.2367_2374delinsTCTGTCCA	NP_001182727.1:p.Ala789=
NM_001195799.2:c.2244_2251delinsTCTGTCCA	NP_001182728.1:p.Ala748=
NM_001195800.2:c.1863_1870delinsTCTGTCCA	NP_001182729.1:p.Ala621=
NM_001195803.2:c.1833_1840delinsTCTGTCCA	NP_001182732.1:p.Ala611=