Canonical Allele Identifier: CA1139666291
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 870320
ClinVar RCV Id: RCV001251450
dbSNP Id: rs2077271255

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105339dup , CM000681.2:g.11105339dup GRCh38
NC_000019.9:g.11216015dup , CM000681.1:g.11216015dup GRCh37
NC_000019.8:g.11077015dup NCBI36
NG_009060.1:g.20959dup , LRG_274:g.20959dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.691dup ENSP00000252444.6:p.Val231GlyfsTer?
ENST00000559340.2:c.433dup ENSP00000453696.2:p.Val145GlyfsTer?
ENST00000560467.2:c.433dup ENSP00000453513.2:p.Val145GlyfsTer?
ENST00000558518.6:c.433dup MANE Select ENSP00000454071.1:p.Val145GlyfsTer?
ENST00000252444.9:c.687dup
ENST00000455727.6:c.314-2053dup ENSP00000397829.2:n.314-2053dup
ENST00000535915.5:c.310dup ENSP00000440520.1:p.Val104GlyfsTer?
ENST00000545707.5:c.314-1226dup ENSP00000437639.1:n.314-1226dup
ENST00000557933.5:c.433dup ENSP00000453557.1:p.Val145GlyfsTer?
ENST00000558013.5:c.433dup ENSP00000453346.1:p.Val145GlyfsTer?
ENST00000558518.5:c.433dup ENSP00000454071.1:p.Val145GlyfsTer?
ENST00000560467.1:c.33dup
NM_000527.4:c.433dup , LRG_274t1:c.433dup NP_000518.1:p.Val145GlyfsTer?
NM_001195798.1:c.433dup NP_001182727.1:p.Val145GlyfsTer?
NM_001195799.1:c.310dup NP_001182728.1:p.Val104GlyfsTer?
NM_001195800.1:c.314-2053dup NP_001182729.1:n.314-2053dup
NM_001195803.1:c.314-1226dup NP_001182732.1:n.314-1226dup
XM_011528010.1:c.433dup XP_011526312.1:p.Val145GlyfsTer?
XM_011528011.1:c.314-1226dup XP_011526313.1:n.314-1226dup
XR_244074.2:n.583dup
XM_011528010.2:c.433dup XP_011526312.1:p.Val145GlyfsTer?
XR_001753685.2:n.550dup
XR_001753686.2:n.550dup
NM_000527.5:c.433dup MANE Select NP_000518.1:p.Val145GlyfsTer?
NM_001195798.2:c.433dup NP_001182727.1:p.Val145GlyfsTer?
NM_001195799.2:c.310dup NP_001182728.1:p.Val104GlyfsTer?
NM_001195800.2:c.314-2053dup NP_001182729.1:n.314-2053dup
NM_001195803.2:c.314-1226dup NP_001182732.1:n.314-1226dup