Canonical Allele Identifier: CA2322767285

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105239_11105249delinsGGACGAGTTTC , CM000681.2:g.11105239_11105249delinsGGACGAGTTTC	GRCh38
NC_000019.9:g.11215915_11215925delinsGGACGAGTTTC , CM000681.1:g.11215915_11215925delinsGGACGAGTTTC	GRCh37
NC_000019.8:g.11076915_11076925delinsGGACGAGTTTC	NCBI36
NG_009060.1:g.20859_20869delinsGGACGAGTTTC , LRG_274:g.20859_20869delinsGGACGAGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.591_601delinsGGACGAGTTTC	ENSP00000252444.6:p.Gln197=
ENST00000559340.2:c.333_343delinsGGACGAGTTTC	ENSP00000453696.2:p.Gln111=
ENST00000560467.2:c.333_343delinsGGACGAGTTTC	ENSP00000453513.2:p.Gln111=
ENST00000558518.6:c.333_343delinsGGACGAGTTTC MANE Select	ENSP00000454071.1:p.Gln111=
ENST00000252444.9:c.587_597delinsGGACGAGTTTC
ENST00000455727.6:c.314-2153_314-2143delinsGGACGAGTTTC	ENSP00000397829.2:n.314-2153_314-2143delinsGGACGAGTTTC
ENST00000535915.5:c.210_220delinsGGACGAGTTTC	ENSP00000440520.1:p.Gln70=
ENST00000545707.5:c.314-1326_314-1316delinsGGACGAGTTTC	ENSP00000437639.1:n.314-1326_314-1316delinsGGACGAGTTTC
ENST00000557933.5:c.333_343delinsGGACGAGTTTC	ENSP00000453557.1:p.Gln111=
ENST00000558013.5:c.333_343delinsGGACGAGTTTC	ENSP00000453346.1:p.Gln111=
ENST00000558518.5:c.333_343delinsGGACGAGTTTC	ENSP00000454071.1:p.Gln111=
NM_000527.4:c.333_343delinsGGACGAGTTTC , LRG_274t1:c.333_343delinsGGACGAGTTTC	NP_000518.1:p.Gln111=
NM_001195798.1:c.333_343delinsGGACGAGTTTC	NP_001182727.1:p.Gln111=
NM_001195799.1:c.210_220delinsGGACGAGTTTC	NP_001182728.1:p.Gln70=
NM_001195800.1:c.314-2153_314-2143delinsGGACGAGTTTC	NP_001182729.1:n.314-2153_314-2143delinsGGACGAGTTTC
NM_001195803.1:c.314-1326_314-1316delinsGGACGAGTTTC	NP_001182732.1:n.314-1326_314-1316delinsGGACGAGTTTC
XM_011528010.1:c.333_343delinsGGACGAGTTTC	XP_011526312.1:p.Gln111=
XM_011528011.1:c.314-1326_314-1316delinsGGACGAGTTTC	XP_011526313.1:n.314-1326_314-1316delinsGGACGAGTTTC
XR_244074.2:n.483_493delinsGGACGAGTTTC
XM_011528010.2:c.333_343delinsGGACGAGTTTC	XP_011526312.1:p.Gln111=
XR_001753685.2:n.450_460delinsGGACGAGTTTC
XR_001753686.2:n.450_460delinsGGACGAGTTTC
NM_000527.5:c.333_343delinsGGACGAGTTTC MANE Select	NP_000518.1:p.Gln111=
NM_001195798.2:c.333_343delinsGGACGAGTTTC	NP_001182727.1:p.Gln111=
NM_001195799.2:c.210_220delinsGGACGAGTTTC	NP_001182728.1:p.Gln70=
NM_001195800.2:c.314-2153_314-2143delinsGGACGAGTTTC	NP_001182729.1:n.314-2153_314-2143delinsGGACGAGTTTC
NM_001195803.2:c.314-1326_314-1316delinsGGACGAGTTTC	NP_001182732.1:n.314-1326_314-1316delinsGGACGAGTTTC