Canonical Allele Identifier: CA916080161
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 863180
ClinVar RCV Id: RCV001070086
dbSNP Id: rs2077276411

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105483dup , CM000681.2:g.11105483dup GRCh38
NC_000019.9:g.11216159dup , CM000681.1:g.11216159dup GRCh37
NC_000019.8:g.11077159dup NCBI36
NG_009060.1:g.21103dup , LRG_274:g.21103dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.835dup ENSP00000252444.6:p.Asp279GlyfsTer3
ENST00000559340.2:c.577dup ENSP00000453696.2:p.Asp193GlyfsTer3
ENST00000560467.2:c.577dup ENSP00000453513.2:p.Asp193GlyfsTer3
ENST00000558518.6:c.577dup MANE Select ENSP00000454071.1:p.Asp193GlyfsTer3
ENST00000252444.9:c.831dup
ENST00000455727.6:c.314-1909dup ENSP00000397829.2:n.314-1909dup
ENST00000535915.5:c.454dup ENSP00000440520.1:p.Asp152GlyfsTer3
ENST00000545707.5:c.314-1082dup ENSP00000437639.1:n.314-1082dup
ENST00000557933.5:c.577dup ENSP00000453557.1:p.Asp193GlyfsTer3
ENST00000558013.5:c.577dup ENSP00000453346.1:p.Asp193GlyfsTer3
ENST00000558518.5:c.577dup ENSP00000454071.1:p.Asp193GlyfsTer3
ENST00000560467.1:c.177dup
NM_000527.4:c.577dup , LRG_274t1:c.577dup NP_000518.1:p.Asp193GlyfsTer3
NM_001195798.1:c.577dup NP_001182727.1:p.Asp193GlyfsTer3
NM_001195799.1:c.454dup NP_001182728.1:p.Asp152GlyfsTer3
NM_001195800.1:c.314-1909dup NP_001182729.1:n.314-1909dup
NM_001195803.1:c.314-1082dup NP_001182732.1:n.314-1082dup
XM_011528010.1:c.577dup XP_011526312.1:p.Asp193GlyfsTer3
XM_011528011.1:c.314-1082dup XP_011526313.1:n.314-1082dup
XR_244074.2:n.727dup
XM_011528010.2:c.577dup XP_011526312.1:p.Asp193GlyfsTer3
XR_001753685.2:n.694dup
XR_001753686.2:n.694dup
NM_000527.5:c.577dup MANE Select NP_000518.1:p.Asp193GlyfsTer3
NM_001195798.2:c.577dup NP_001182727.1:p.Asp193GlyfsTer3
NM_001195799.2:c.454dup NP_001182728.1:p.Asp152GlyfsTer3
NM_001195800.2:c.314-1909dup NP_001182729.1:n.314-1909dup
NM_001195803.2:c.314-1082dup NP_001182732.1:n.314-1082dup