Canonical Allele Identifier: CA2322771892

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113556_11113557delinsCG , CM000681.2:g.11113556_11113557delinsCG	GRCh38
NC_000019.9:g.11224232_11224233delinsCG , CM000681.1:g.11224232_11224233delinsCG	GRCh37
NC_000019.8:g.11085232_11085233delinsCG	NCBI36
NG_009060.1:g.29176_29177delinsCG , LRG_274:g.29176_29177delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1638_1639delinsCG	ENSP00000252444.6:p.His546=
ENST00000559340.2:c.1380_1381delinsCG	ENSP00000453696.2:p.His460=
ENST00000560467.2:c.1260_1261delinsCG	ENSP00000453513.2:p.His420=
ENST00000558518.6:c.1380_1381delinsCG MANE Select	ENSP00000454071.1:p.His460=
ENST00000252444.9:c.1634_1635delinsCG
ENST00000455727.6:c.876_877delinsCG	ENSP00000397829.2:p.His292=
ENST00000535915.5:c.1257_1258delinsCG	ENSP00000440520.1:p.His419=
ENST00000545707.5:c.999_1000delinsCG	ENSP00000437639.1:p.His333=
ENST00000557933.5:c.1380_1381delinsCG	ENSP00000453557.1:p.His460=
ENST00000558013.5:c.1380_1381delinsCG	ENSP00000453346.1:p.His460=
ENST00000558518.5:c.1380_1381delinsCG	ENSP00000454071.1:p.His460=
ENST00000559340.1:c.101_102delinsCG
ENST00000560467.1:c.860_861delinsCG
NM_000527.4:c.1380_1381delinsCG , LRG_274t1:c.1380_1381delinsCG	NP_000518.1:p.His460=
NM_001195798.1:c.1380_1381delinsCG	NP_001182727.1:p.His460=
NM_001195799.1:c.1257_1258delinsCG	NP_001182728.1:p.His419=
NM_001195800.1:c.876_877delinsCG	NP_001182729.1:p.His292=
NM_001195803.1:c.999_1000delinsCG	NP_001182732.1:p.His333=
XM_011528010.1:c.1380_1381delinsCG	XP_011526312.1:p.His460=
XM_011528011.1:c.999_1000delinsCG	XP_011526313.1:p.His333=
XR_244074.2:n.1530_1531delinsCG
XM_011528010.2:c.1380_1381delinsCG	XP_011526312.1:p.His460=
XR_001753685.2:n.1497_1498delinsCG
XR_001753686.2:n.1497_1498delinsCG
NM_000527.5:c.1380_1381delinsCG MANE Select	NP_000518.1:p.His460=
NM_001195798.2:c.1380_1381delinsCG	NP_001182727.1:p.His460=
NM_001195799.2:c.1257_1258delinsCG	NP_001182728.1:p.His419=
NM_001195800.2:c.876_877delinsCG	NP_001182729.1:p.His292=
NM_001195803.2:c.999_1000delinsCG	NP_001182732.1:p.His333=