Canonical Allele Identifier: CA2322771985

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113666_11113668delinsCTG , CM000681.2:g.11113666_11113668delinsCTG	GRCh38
NC_000019.9:g.11224342_11224344delinsCTG , CM000681.1:g.11224342_11224344delinsCTG	GRCh37
NC_000019.8:g.11085342_11085344delinsCTG	NCBI36
NG_009060.1:g.29286_29288delinsCTG , LRG_274:g.29286_29288delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1748_1750delinsCTG	ENSP00000252444.6:p.Thr583=
ENST00000559340.2:c.1490_1492delinsCTG	ENSP00000453696.2:p.Thr497=
ENST00000560467.2:c.1370_1372delinsCTG	ENSP00000453513.2:p.Thr457=
ENST00000558518.6:c.1490_1492delinsCTG MANE Select	ENSP00000454071.1:p.Thr497=
ENST00000252444.9:c.1744_1746delinsCTG
ENST00000455727.6:c.986_988delinsCTG	ENSP00000397829.2:p.Thr329=
ENST00000535915.5:c.1367_1369delinsCTG	ENSP00000440520.1:p.Thr456=
ENST00000545707.5:c.1109_1111delinsCTG	ENSP00000437639.1:p.Thr370=
ENST00000557933.5:c.1490_1492delinsCTG	ENSP00000453557.1:p.Thr497=
ENST00000558013.5:c.1490_1492delinsCTG	ENSP00000453346.1:p.Thr497=
ENST00000558518.5:c.1490_1492delinsCTG	ENSP00000454071.1:p.Thr497=
ENST00000559340.1:c.211_213delinsCTG
NM_000527.4:c.1490_1492delinsCTG , LRG_274t1:c.1490_1492delinsCTG	NP_000518.1:p.Thr497=
NM_001195798.1:c.1490_1492delinsCTG	NP_001182727.1:p.Thr497=
NM_001195799.1:c.1367_1369delinsCTG	NP_001182728.1:p.Thr456=
NM_001195800.1:c.986_988delinsCTG	NP_001182729.1:p.Thr329=
NM_001195803.1:c.1109_1111delinsCTG	NP_001182732.1:p.Thr370=
XM_011528010.1:c.1490_1492delinsCTG	XP_011526312.1:p.Thr497=
XM_011528011.1:c.1109_1111delinsCTG	XP_011526313.1:p.Thr370=
XR_244074.2:n.1640_1642delinsCTG
XM_011528010.2:c.1490_1492delinsCTG	XP_011526312.1:p.Thr497=
XR_001753685.2:n.1607_1609delinsCTG
XR_001753686.2:n.1607_1609delinsCTG
NM_000527.5:c.1490_1492delinsCTG MANE Select	NP_000518.1:p.Thr497=
NM_001195798.2:c.1490_1492delinsCTG	NP_001182727.1:p.Thr497=
NM_001195799.2:c.1367_1369delinsCTG	NP_001182728.1:p.Thr456=
NM_001195800.2:c.986_988delinsCTG	NP_001182729.1:p.Thr329=
NM_001195803.2:c.1109_1111delinsCTG	NP_001182732.1:p.Thr370=