Canonical Allele Identifier: CA1139666259

Gene: LDLR

Linked Data

• ClinVar Variation Id: 977995
• ClinVar RCV Id: RCV001255951
• dbSNP Id: rs2077311774

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107417_11107418insGGAC , CM000681.2:g.11107417_11107418insGGAC	GRCh38
NC_000019.9:g.11218093_11218094insGGAC , CM000681.1:g.11218093_11218094insGGAC	GRCh37
NC_000019.8:g.11079093_11079094insGGAC	NCBI36
NG_009060.1:g.23037_23038insGGAC , LRG_274:g.23037_23038insGGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1101_1102insGGAC	ENSP00000252444.6:p.Phe368GlyfsTer20
ENST00000559340.2:c.843_844insGGAC	ENSP00000453696.2:p.Phe282GlyfsTer20
ENST00000560467.2:c.843_844insGGAC	ENSP00000453513.2:p.Phe282GlyfsTer20
ENST00000558518.6:c.843_844insGGAC MANE Select	ENSP00000454071.1:p.Phe282GlyfsTer20
ENST00000252444.9:c.1097_1098insGGAC
ENST00000455727.6:c.339_340insGGAC	ENSP00000397829.2:p.Phe114GlyfsTer20
ENST00000535915.5:c.720_721insGGAC	ENSP00000440520.1:p.Phe241GlyfsTer20
ENST00000545707.5:c.462_463insGGAC	ENSP00000437639.1:p.Phe155GlyfsTer20
ENST00000557933.5:c.843_844insGGAC	ENSP00000453557.1:p.Phe282GlyfsTer20
ENST00000558013.5:c.843_844insGGAC	ENSP00000453346.1:p.Phe282GlyfsTer20
ENST00000558518.5:c.843_844insGGAC	ENSP00000454071.1:p.Phe282GlyfsTer20
ENST00000558528.1:n.358_359insGGAC
ENST00000560467.1:c.443_444insGGAC
NM_000527.4:c.843_844insGGAC , LRG_274t1:c.843_844insGGAC	NP_000518.1:p.Phe282GlyfsTer20
NM_001195798.1:c.843_844insGGAC	NP_001182727.1:p.Phe282GlyfsTer20
NM_001195799.1:c.720_721insGGAC	NP_001182728.1:p.Phe241GlyfsTer20
NM_001195800.1:c.339_340insGGAC	NP_001182729.1:p.Phe114GlyfsTer20
NM_001195803.1:c.462_463insGGAC	NP_001182732.1:p.Phe155GlyfsTer20
XM_011528010.1:c.843_844insGGAC	XP_011526312.1:p.Phe282GlyfsTer20
XM_011528011.1:c.462_463insGGAC	XP_011526313.1:p.Phe155GlyfsTer20
XR_244074.2:n.993_994insGGAC
XM_011528010.2:c.843_844insGGAC	XP_011526312.1:p.Phe282GlyfsTer20
XR_001753685.2:n.960_961insGGAC
XR_001753686.2:n.960_961insGGAC
NM_000527.5:c.843_844insGGAC MANE Select	NP_000518.1:p.Phe282GlyfsTer20
NM_001195798.2:c.843_844insGGAC	NP_001182727.1:p.Phe282GlyfsTer20
NM_001195799.2:c.720_721insGGAC	NP_001182728.1:p.Phe241GlyfsTer20
NM_001195800.2:c.339_340insGGAC	NP_001182729.1:p.Phe114GlyfsTer20
NM_001195803.2:c.462_463insGGAC	NP_001182732.1:p.Phe155GlyfsTer20