Canonical Allele Identifier: CA2322767290

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105244_11105249delinsAGTTTC , CM000681.2:g.11105244_11105249delinsAGTTTC	GRCh38
NC_000019.9:g.11215920_11215925delinsAGTTTC , CM000681.1:g.11215920_11215925delinsAGTTTC	GRCh37
NC_000019.8:g.11076920_11076925delinsAGTTTC	NCBI36
NG_009060.1:g.20864_20869delinsAGTTTC , LRG_274:g.20864_20869delinsAGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.596_601delinsAGTTTC	ENSP00000252444.6:p.Glu199=
ENST00000559340.2:c.338_343delinsAGTTTC	ENSP00000453696.2:p.Glu113=
ENST00000560467.2:c.338_343delinsAGTTTC	ENSP00000453513.2:p.Glu113=
ENST00000558518.6:c.338_343delinsAGTTTC MANE Select	ENSP00000454071.1:p.Glu113=
ENST00000252444.9:c.592_597delinsAGTTTC
ENST00000455727.6:c.314-2148_314-2143delinsAGTTTC	ENSP00000397829.2:n.314-2148_314-2143delinsAGTTTC
ENST00000535915.5:c.215_220delinsAGTTTC	ENSP00000440520.1:p.Glu72=
ENST00000545707.5:c.314-1321_314-1316delinsAGTTTC	ENSP00000437639.1:n.314-1321_314-1316delinsAGTTTC
ENST00000557933.5:c.338_343delinsAGTTTC	ENSP00000453557.1:p.Glu113=
ENST00000558013.5:c.338_343delinsAGTTTC	ENSP00000453346.1:p.Glu113=
ENST00000558518.5:c.338_343delinsAGTTTC	ENSP00000454071.1:p.Glu113=
NM_000527.4:c.338_343delinsAGTTTC , LRG_274t1:c.338_343delinsAGTTTC	NP_000518.1:p.Glu113=
NM_001195798.1:c.338_343delinsAGTTTC	NP_001182727.1:p.Glu113=
NM_001195799.1:c.215_220delinsAGTTTC	NP_001182728.1:p.Glu72=
NM_001195800.1:c.314-2148_314-2143delinsAGTTTC	NP_001182729.1:n.314-2148_314-2143delinsAGTTTC
NM_001195803.1:c.314-1321_314-1316delinsAGTTTC	NP_001182732.1:n.314-1321_314-1316delinsAGTTTC
XM_011528010.1:c.338_343delinsAGTTTC	XP_011526312.1:p.Glu113=
XM_011528011.1:c.314-1321_314-1316delinsAGTTTC	XP_011526313.1:n.314-1321_314-1316delinsAGTTTC
XR_244074.2:n.488_493delinsAGTTTC
XM_011528010.2:c.338_343delinsAGTTTC	XP_011526312.1:p.Glu113=
XR_001753685.2:n.455_460delinsAGTTTC
XR_001753686.2:n.455_460delinsAGTTTC
NM_000527.5:c.338_343delinsAGTTTC MANE Select	NP_000518.1:p.Glu113=
NM_001195798.2:c.338_343delinsAGTTTC	NP_001182727.1:p.Glu113=
NM_001195799.2:c.215_220delinsAGTTTC	NP_001182728.1:p.Glu72=
NM_001195800.2:c.314-2148_314-2143delinsAGTTTC	NP_001182729.1:n.314-2148_314-2143delinsAGTTTC
NM_001195803.2:c.314-1321_314-1316delinsAGTTTC	NP_001182732.1:n.314-1321_314-1316delinsAGTTTC