Canonical Allele Identifier: CA2322773295

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116177_11116179delinsCTG , CM000681.2:g.11116177_11116179delinsCTG	GRCh38
NC_000019.9:g.11226853_11226855delinsCTG , CM000681.1:g.11226853_11226855delinsCTG	GRCh37
NC_000019.8:g.11087853_11087855delinsCTG	NCBI36
NG_009060.1:g.31797_31799delinsCTG , LRG_274:g.31797_31799delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1928_1930delinsCTG	ENSP00000252444.6:p.Thr643=
ENST00000559340.2:c.1670_1672delinsCTG	ENSP00000453696.2:p.Thr557=
ENST00000560467.2:c.1550_1552delinsCTG	ENSP00000453513.2:p.Thr517=
ENST00000558518.6:c.1670_1672delinsCTG MANE Select	ENSP00000454071.1:p.Thr557=
ENST00000252444.9:c.1924_1926delinsCTG
ENST00000455727.6:c.1166_1168delinsCTG	ENSP00000397829.2:p.Thr389=
ENST00000535915.5:c.1547_1549delinsCTG	ENSP00000440520.1:p.Thr516=
ENST00000545707.5:c.1289_1291delinsCTG	ENSP00000437639.1:p.Thr430=
ENST00000557933.5:c.1670_1672delinsCTG	ENSP00000453557.1:p.Thr557=
ENST00000558013.5:c.1670_1672delinsCTG	ENSP00000453346.1:p.Thr557=
ENST00000558518.5:c.1670_1672delinsCTG	ENSP00000454071.1:p.Thr557=
ENST00000559340.1:c.391_393delinsCTG
NM_000527.4:c.1670_1672delinsCTG , LRG_274t1:c.1670_1672delinsCTG	NP_000518.1:p.Thr557=
NM_001195798.1:c.1670_1672delinsCTG	NP_001182727.1:p.Thr557=
NM_001195799.1:c.1547_1549delinsCTG	NP_001182728.1:p.Thr516=
NM_001195800.1:c.1166_1168delinsCTG	NP_001182729.1:p.Thr389=
NM_001195803.1:c.1289_1291delinsCTG	NP_001182732.1:p.Thr430=
XM_011528010.1:c.1670_1672delinsCTG	XP_011526312.1:p.Thr557=
XM_011528011.1:c.1289_1291delinsCTG	XP_011526313.1:p.Thr430=
XR_244074.2:n.1820_1822delinsCTG
XM_011528010.2:c.1670_1672delinsCTG	XP_011526312.1:p.Thr557=
XR_001753685.2:n.1787_1789delinsCTG
XR_001753686.2:n.1787_1789delinsCTG
NM_000527.5:c.1670_1672delinsCTG MANE Select	NP_000518.1:p.Thr557=
NM_001195798.2:c.1670_1672delinsCTG	NP_001182727.1:p.Thr557=
NM_001195799.2:c.1547_1549delinsCTG	NP_001182728.1:p.Thr516=
NM_001195800.2:c.1166_1168delinsCTG	NP_001182729.1:p.Thr389=
NM_001195803.2:c.1289_1291delinsCTG	NP_001182732.1:p.Thr430=