Canonical Allele Identifier: CA2322770719

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111549_11111561delinsCAGCTCTGCGTGA , CM000681.2:g.11111549_11111561delinsCAGCTCTGCGTGA	GRCh38
NC_000019.9:g.11222225_11222237delinsCAGCTCTGCGTGA , CM000681.1:g.11222225_11222237delinsCAGCTCTGCGTGA	GRCh37
NC_000019.8:g.11083225_11083237delinsCAGCTCTGCGTGA	NCBI36
NG_009060.1:g.27169_27181delinsCAGCTCTGCGTGA , LRG_274:g.27169_27181delinsCAGCTCTGCGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1354_1366delinsCAGCTCTGCGTGA	ENSP00000252444.6:p.Gln452=
ENST00000559340.2:c.1096_1108delinsCAGCTCTGCGTGA	ENSP00000453696.2:p.Gln366=
ENST00000560467.2:c.976_988delinsCAGCTCTGCGTGA	ENSP00000453513.2:p.Gln326=
ENST00000558518.6:c.1096_1108delinsCAGCTCTGCGTGA MANE Select	ENSP00000454071.1:p.Gln366=
ENST00000252444.9:c.1350_1362delinsCAGCTCTGCGTGA
ENST00000455727.6:c.592_604delinsCAGCTCTGCGTGA	ENSP00000397829.2:p.Gln198=
ENST00000535915.5:c.973_985delinsCAGCTCTGCGTGA	ENSP00000440520.1:p.Gln325=
ENST00000545707.5:c.715_727delinsCAGCTCTGCGTGA	ENSP00000437639.1:p.Gln239=
ENST00000557933.5:c.1096_1108delinsCAGCTCTGCGTGA	ENSP00000453557.1:p.Gln366=
ENST00000558013.5:c.1096_1108delinsCAGCTCTGCGTGA	ENSP00000453346.1:p.Gln366=
ENST00000558518.5:c.1096_1108delinsCAGCTCTGCGTGA	ENSP00000454071.1:p.Gln366=
ENST00000560173.1:n.95_107delinsCAGCTCTGCGTGA
ENST00000560467.1:c.576_588delinsCAGCTCTGCGTGA
NM_000527.4:c.1096_1108delinsCAGCTCTGCGTGA , LRG_274t1:c.1096_1108delinsCAGCTCTGCGTGA	NP_000518.1:p.Gln366=
NM_001195798.1:c.1096_1108delinsCAGCTCTGCGTGA	NP_001182727.1:p.Gln366=
NM_001195799.1:c.973_985delinsCAGCTCTGCGTGA	NP_001182728.1:p.Gln325=
NM_001195800.1:c.592_604delinsCAGCTCTGCGTGA	NP_001182729.1:p.Gln198=
NM_001195803.1:c.715_727delinsCAGCTCTGCGTGA	NP_001182732.1:p.Gln239=
XM_011528010.1:c.1096_1108delinsCAGCTCTGCGTGA	XP_011526312.1:p.Gln366=
XM_011528011.1:c.715_727delinsCAGCTCTGCGTGA	XP_011526313.1:p.Gln239=
XR_244074.2:n.1246_1258delinsCAGCTCTGCGTGA
XM_011528010.2:c.1096_1108delinsCAGCTCTGCGTGA	XP_011526312.1:p.Gln366=
XR_001753685.2:n.1213_1225delinsCAGCTCTGCGTGA
XR_001753686.2:n.1213_1225delinsCAGCTCTGCGTGA
NM_000527.5:c.1096_1108delinsCAGCTCTGCGTGA MANE Select	NP_000518.1:p.Gln366=
NM_001195798.2:c.1096_1108delinsCAGCTCTGCGTGA	NP_001182727.1:p.Gln366=
NM_001195799.2:c.973_985delinsCAGCTCTGCGTGA	NP_001182728.1:p.Gln325=
NM_001195800.2:c.592_604delinsCAGCTCTGCGTGA	NP_001182729.1:p.Gln198=
NM_001195803.2:c.715_727delinsCAGCTCTGCGTGA	NP_001182732.1:p.Gln239=