Canonical Allele Identifier: CA2322775368

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120128_11120129delinsAT , CM000681.2:g.11120128_11120129delinsAT	GRCh38
NC_000019.9:g.11230804_11230805delinsAT , CM000681.1:g.11230804_11230805delinsAT	GRCh37
NC_000019.8:g.11091804_11091805delinsAT	NCBI36
NG_009060.1:g.35748_35749delinsAT , LRG_274:g.35748_35749delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2140_2141delinsAT	ENSP00000252444.6:p.Ile714=
ENST00000559340.2:c.1742_1743delinsAT	ENSP00000453696.2:p.His581=
ENST00000560467.2:c.1762_1763delinsAT	ENSP00000453513.2:p.Ile588=
ENST00000558518.6:c.1882_1883delinsAT MANE Select	ENSP00000454071.1:p.Ile628=
ENST00000252444.9:c.2136_2137delinsAT
ENST00000455727.6:c.1378_1379delinsAT	ENSP00000397829.2:p.Ile460=
ENST00000535915.5:c.1759_1760delinsAT	ENSP00000440520.1:p.Ile587=
ENST00000545707.5:c.1501_1502delinsAT	ENSP00000437639.1:p.Ile501=
ENST00000557933.5:c.1882_1883delinsAT	ENSP00000453557.1:p.Ile628=
ENST00000558013.5:c.1882_1883delinsAT	ENSP00000453346.1:p.Ile628=
ENST00000558518.5:c.1882_1883delinsAT	ENSP00000454071.1:p.Ile628=
ENST00000559340.1:c.463_464delinsAT
NM_000527.4:c.1882_1883delinsAT , LRG_274t1:c.1882_1883delinsAT	NP_000518.1:p.Ile628=
NM_001195798.1:c.1882_1883delinsAT	NP_001182727.1:p.Ile628=
NM_001195799.1:c.1759_1760delinsAT	NP_001182728.1:p.Ile587=
NM_001195800.1:c.1378_1379delinsAT	NP_001182729.1:p.Ile460=
NM_001195803.1:c.1501_1502delinsAT	NP_001182732.1:p.Ile501=
XM_011528010.1:c.1882_1883delinsAT	XP_011526312.1:p.Ile628=
XM_011528011.1:c.1501_1502delinsAT	XP_011526313.1:p.Ile501=
XR_244074.2:n.1892_1893delinsAT
XM_011528010.2:c.1882_1883delinsAT	XP_011526312.1:p.Ile628=
XR_001753685.2:n.1999_2000delinsAT
XR_001753686.2:n.1859_1860delinsAT
NM_000527.5:c.1882_1883delinsAT MANE Select	NP_000518.1:p.Ile628=
NM_001195798.2:c.1882_1883delinsAT	NP_001182727.1:p.Ile628=
NM_001195799.2:c.1759_1760delinsAT	NP_001182728.1:p.Ile587=
NM_001195800.2:c.1378_1379delinsAT	NP_001182729.1:p.Ile460=
NM_001195803.2:c.1501_1502delinsAT	NP_001182732.1:p.Ile501=