Canonical Allele Identifier: CA2322772047

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113743_11113753delinsGTGGTGGATCC , CM000681.2:g.11113743_11113753delinsGTGGTGGATCC	GRCh38
NC_000019.9:g.11224419_11224429delinsGTGGTGGATCC , CM000681.1:g.11224419_11224429delinsGTGGTGGATCC	GRCh37
NC_000019.8:g.11085419_11085429delinsGTGGTGGATCC	NCBI36
NG_009060.1:g.29363_29373delinsGTGGTGGATCC , LRG_274:g.29363_29373delinsGTGGTGGATCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1825_1835delinsGTGGTGGATCC	ENSP00000252444.6:p.Val609=
ENST00000559340.2:c.1567_1577delinsGTGGTGGATCC	ENSP00000453696.2:p.Val523=
ENST00000560467.2:c.1447_1457delinsGTGGTGGATCC	ENSP00000453513.2:p.Val483=
ENST00000558518.6:c.1567_1577delinsGTGGTGGATCC MANE Select	ENSP00000454071.1:p.Val523=
ENST00000252444.9:c.1821_1831delinsGTGGTGGATCC
ENST00000455727.6:c.1063_1073delinsGTGGTGGATCC	ENSP00000397829.2:p.Val355=
ENST00000535915.5:c.1444_1454delinsGTGGTGGATCC	ENSP00000440520.1:p.Val482=
ENST00000545707.5:c.1186_1196delinsGTGGTGGATCC	ENSP00000437639.1:p.Val396=
ENST00000557933.5:c.1567_1577delinsGTGGTGGATCC	ENSP00000453557.1:p.Val523=
ENST00000558013.5:c.1567_1577delinsGTGGTGGATCC	ENSP00000453346.1:p.Val523=
ENST00000558518.5:c.1567_1577delinsGTGGTGGATCC	ENSP00000454071.1:p.Val523=
ENST00000559340.1:c.288_298delinsGTGGTGGATCC
NM_000527.4:c.1567_1577delinsGTGGTGGATCC , LRG_274t1:c.1567_1577delinsGTGGTGGATCC	NP_000518.1:p.Val523=
NM_001195798.1:c.1567_1577delinsGTGGTGGATCC	NP_001182727.1:p.Val523=
NM_001195799.1:c.1444_1454delinsGTGGTGGATCC	NP_001182728.1:p.Val482=
NM_001195800.1:c.1063_1073delinsGTGGTGGATCC	NP_001182729.1:p.Val355=
NM_001195803.1:c.1186_1196delinsGTGGTGGATCC	NP_001182732.1:p.Val396=
XM_011528010.1:c.1567_1577delinsGTGGTGGATCC	XP_011526312.1:p.Val523=
XM_011528011.1:c.1186_1196delinsGTGGTGGATCC	XP_011526313.1:p.Val396=
XR_244074.2:n.1717_1727delinsGTGGTGGATCC
XM_011528010.2:c.1567_1577delinsGTGGTGGATCC	XP_011526312.1:p.Val523=
XR_001753685.2:n.1684_1694delinsGTGGTGGATCC
XR_001753686.2:n.1684_1694delinsGTGGTGGATCC
NM_000527.5:c.1567_1577delinsGTGGTGGATCC MANE Select	NP_000518.1:p.Val523=
NM_001195798.2:c.1567_1577delinsGTGGTGGATCC	NP_001182727.1:p.Val523=
NM_001195799.2:c.1444_1454delinsGTGGTGGATCC	NP_001182728.1:p.Val482=
NM_001195800.2:c.1063_1073delinsGTGGTGGATCC	NP_001182729.1:p.Val355=
NM_001195803.2:c.1186_1196delinsGTGGTGGATCC	NP_001182732.1:p.Val396=