Canonical Allele Identifier: CA2322771897

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113566_11113567delinsTC , CM000681.2:g.11113566_11113567delinsTC	GRCh38
NC_000019.9:g.11224242_11224243delinsTC , CM000681.1:g.11224242_11224243delinsTC	GRCh37
NC_000019.8:g.11085242_11085243delinsTC	NCBI36
NG_009060.1:g.29186_29187delinsTC , LRG_274:g.29186_29187delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1648_1649delinsTC	ENSP00000252444.6:p.Ser550=
ENST00000559340.2:c.1390_1391delinsTC	ENSP00000453696.2:p.Ser464=
ENST00000560467.2:c.1270_1271delinsTC	ENSP00000453513.2:p.Ser424=
ENST00000558518.6:c.1390_1391delinsTC MANE Select	ENSP00000454071.1:p.Ser464=
ENST00000252444.9:c.1644_1645delinsTC
ENST00000455727.6:c.886_887delinsTC	ENSP00000397829.2:p.Ser296=
ENST00000535915.5:c.1267_1268delinsTC	ENSP00000440520.1:p.Ser423=
ENST00000545707.5:c.1009_1010delinsTC	ENSP00000437639.1:p.Ser337=
ENST00000557933.5:c.1390_1391delinsTC	ENSP00000453557.1:p.Ser464=
ENST00000558013.5:c.1390_1391delinsTC	ENSP00000453346.1:p.Ser464=
ENST00000558518.5:c.1390_1391delinsTC	ENSP00000454071.1:p.Ser464=
ENST00000559340.1:c.111_112delinsTC
ENST00000560467.1:c.870_871delinsTC
NM_000527.4:c.1390_1391delinsTC , LRG_274t1:c.1390_1391delinsTC	NP_000518.1:p.Ser464=
NM_001195798.1:c.1390_1391delinsTC	NP_001182727.1:p.Ser464=
NM_001195799.1:c.1267_1268delinsTC	NP_001182728.1:p.Ser423=
NM_001195800.1:c.886_887delinsTC	NP_001182729.1:p.Ser296=
NM_001195803.1:c.1009_1010delinsTC	NP_001182732.1:p.Ser337=
XM_011528010.1:c.1390_1391delinsTC	XP_011526312.1:p.Ser464=
XM_011528011.1:c.1009_1010delinsTC	XP_011526313.1:p.Ser337=
XR_244074.2:n.1540_1541delinsTC
XM_011528010.2:c.1390_1391delinsTC	XP_011526312.1:p.Ser464=
XR_001753685.2:n.1507_1508delinsTC
XR_001753686.2:n.1507_1508delinsTC
NM_000527.5:c.1390_1391delinsTC MANE Select	NP_000518.1:p.Ser464=
NM_001195798.2:c.1390_1391delinsTC	NP_001182727.1:p.Ser464=
NM_001195799.2:c.1267_1268delinsTC	NP_001182728.1:p.Ser423=
NM_001195800.2:c.886_887delinsTC	NP_001182729.1:p.Ser296=
NM_001195803.2:c.1009_1010delinsTC	NP_001182732.1:p.Ser337=