Canonical Allele Identifier: CA2322767334

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105287_11105291delinsCTGTG , CM000681.2:g.11105287_11105291delinsCTGTG	GRCh38
NC_000019.9:g.11215963_11215967delinsCTGTG , CM000681.1:g.11215963_11215967delinsCTGTG	GRCh37
NC_000019.8:g.11076963_11076967delinsCTGTG	NCBI36
NG_009060.1:g.20907_20911delinsCTGTG , LRG_274:g.20907_20911delinsCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.639_643delinsCTGTG	ENSP00000252444.6:p.Val213=
ENST00000559340.2:c.381_385delinsCTGTG	ENSP00000453696.2:p.Val127=
ENST00000560467.2:c.381_385delinsCTGTG	ENSP00000453513.2:p.Val127=
ENST00000558518.6:c.381_385delinsCTGTG MANE Select	ENSP00000454071.1:p.Val127=
ENST00000252444.9:c.635_639delinsCTGTG
ENST00000455727.6:c.314-2105_314-2101delinsCTGTG	ENSP00000397829.2:n.314-2105_314-2101delinsCTGTG
ENST00000535915.5:c.258_262delinsCTGTG	ENSP00000440520.1:p.Val86=
ENST00000545707.5:c.314-1278_314-1274delinsCTGTG	ENSP00000437639.1:n.314-1278_314-1274delinsCTGTG
ENST00000557933.5:c.381_385delinsCTGTG	ENSP00000453557.1:p.Val127=
ENST00000558013.5:c.381_385delinsCTGTG	ENSP00000453346.1:p.Val127=
ENST00000558518.5:c.381_385delinsCTGTG	ENSP00000454071.1:p.Val127=
NM_000527.4:c.381_385delinsCTGTG , LRG_274t1:c.381_385delinsCTGTG	NP_000518.1:p.Val127=
NM_001195798.1:c.381_385delinsCTGTG	NP_001182727.1:p.Val127=
NM_001195799.1:c.258_262delinsCTGTG	NP_001182728.1:p.Val86=
NM_001195800.1:c.314-2105_314-2101delinsCTGTG	NP_001182729.1:n.314-2105_314-2101delinsCTGTG
NM_001195803.1:c.314-1278_314-1274delinsCTGTG	NP_001182732.1:n.314-1278_314-1274delinsCTGTG
XM_011528010.1:c.381_385delinsCTGTG	XP_011526312.1:p.Val127=
XM_011528011.1:c.314-1278_314-1274delinsCTGTG	XP_011526313.1:n.314-1278_314-1274delinsCTGTG
XR_244074.2:n.531_535delinsCTGTG
XM_011528010.2:c.381_385delinsCTGTG	XP_011526312.1:p.Val127=
XR_001753685.2:n.498_502delinsCTGTG
XR_001753686.2:n.498_502delinsCTGTG
NM_000527.5:c.381_385delinsCTGTG MANE Select	NP_000518.1:p.Val127=
NM_001195798.2:c.381_385delinsCTGTG	NP_001182727.1:p.Val127=
NM_001195799.2:c.258_262delinsCTGTG	NP_001182728.1:p.Val86=
NM_001195800.2:c.314-2105_314-2101delinsCTGTG	NP_001182729.1:n.314-2105_314-2101delinsCTGTG
NM_001195803.2:c.314-1278_314-1274delinsCTGTG	NP_001182732.1:n.314-1278_314-1274delinsCTGTG