Canonical Allele Identifier: CA2322771877

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113539_11113549delinsCAGCTTGACAG , CM000681.2:g.11113539_11113549delinsCAGCTTGACAG	GRCh38
NC_000019.9:g.11224215_11224225delinsCAGCTTGACAG , CM000681.1:g.11224215_11224225delinsCAGCTTGACAG	GRCh37
NC_000019.8:g.11085215_11085225delinsCAGCTTGACAG	NCBI36
NG_009060.1:g.29159_29169delinsCAGCTTGACAG , LRG_274:g.29159_29169delinsCAGCTTGACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1621_1631delinsCAGCTTGACAG	ENSP00000252444.6:p.Gln541=
ENST00000559340.2:c.1363_1373delinsCAGCTTGACAG	ENSP00000453696.2:p.Gln455=
ENST00000560467.2:c.1243_1253delinsCAGCTTGACAG	ENSP00000453513.2:p.Gln415=
ENST00000558518.6:c.1363_1373delinsCAGCTTGACAG MANE Select	ENSP00000454071.1:p.Gln455=
ENST00000252444.9:c.1617_1627delinsCAGCTTGACAG
ENST00000455727.6:c.859_869delinsCAGCTTGACAG	ENSP00000397829.2:p.Gln287=
ENST00000535915.5:c.1240_1250delinsCAGCTTGACAG	ENSP00000440520.1:p.Gln414=
ENST00000545707.5:c.982_992delinsCAGCTTGACAG	ENSP00000437639.1:p.Gln328=
ENST00000557933.5:c.1363_1373delinsCAGCTTGACAG	ENSP00000453557.1:p.Gln455=
ENST00000558013.5:c.1363_1373delinsCAGCTTGACAG	ENSP00000453346.1:p.Gln455=
ENST00000558518.5:c.1363_1373delinsCAGCTTGACAG	ENSP00000454071.1:p.Gln455=
ENST00000559340.1:c.84_94delinsCAGCTTGACAG
ENST00000560467.1:c.843_853delinsCAGCTTGACAG
NM_000527.4:c.1363_1373delinsCAGCTTGACAG , LRG_274t1:c.1363_1373delinsCAGCTTGACAG	NP_000518.1:p.Gln455=
NM_001195798.1:c.1363_1373delinsCAGCTTGACAG	NP_001182727.1:p.Gln455=
NM_001195799.1:c.1240_1250delinsCAGCTTGACAG	NP_001182728.1:p.Gln414=
NM_001195800.1:c.859_869delinsCAGCTTGACAG	NP_001182729.1:p.Gln287=
NM_001195803.1:c.982_992delinsCAGCTTGACAG	NP_001182732.1:p.Gln328=
XM_011528010.1:c.1363_1373delinsCAGCTTGACAG	XP_011526312.1:p.Gln455=
XM_011528011.1:c.982_992delinsCAGCTTGACAG	XP_011526313.1:p.Gln328=
XR_244074.2:n.1513_1523delinsCAGCTTGACAG
XM_011528010.2:c.1363_1373delinsCAGCTTGACAG	XP_011526312.1:p.Gln455=
XR_001753685.2:n.1480_1490delinsCAGCTTGACAG
XR_001753686.2:n.1480_1490delinsCAGCTTGACAG
NM_000527.5:c.1363_1373delinsCAGCTTGACAG MANE Select	NP_000518.1:p.Gln455=
NM_001195798.2:c.1363_1373delinsCAGCTTGACAG	NP_001182727.1:p.Gln455=
NM_001195799.2:c.1240_1250delinsCAGCTTGACAG	NP_001182728.1:p.Gln414=
NM_001195800.2:c.859_869delinsCAGCTTGACAG	NP_001182729.1:p.Gln287=
NM_001195803.2:c.982_992delinsCAGCTTGACAG	NP_001182732.1:p.Gln328=