Canonical Allele Identifier: CA10585484
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251875
ClinVar RCV Id: RCV000237253
dbSNP Id: rs879254924

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113678dup , CM000681.2:g.11113678dup GRCh38
NC_000019.9:g.11224354dup , CM000681.1:g.11224354dup GRCh37
NC_000019.8:g.11085354dup NCBI36
NG_009060.1:g.29298dup , LRG_274:g.29298dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1760dup ENSP00000252444.6:p.Asp588GlyfsTer?
ENST00000559340.2:c.1502dup ENSP00000453696.2:p.Asp502GlyfsTer?
ENST00000560467.2:c.1382dup ENSP00000453513.2:p.Asp462GlyfsTer?
ENST00000558518.6:c.1502dup MANE Select ENSP00000454071.1:p.Asp502GlyfsTer?
ENST00000252444.9:c.1756dup
ENST00000455727.6:c.998dup ENSP00000397829.2:p.Asp334GlyfsTer?
ENST00000535915.5:c.1379dup ENSP00000440520.1:p.Asp461GlyfsTer?
ENST00000545707.5:c.1121dup ENSP00000437639.1:p.Asp375GlyfsTer?
ENST00000557933.5:c.1502dup ENSP00000453557.1:p.Asp502GlyfsTer?
ENST00000558013.5:c.1502dup ENSP00000453346.1:p.Asp502GlyfsTer?
ENST00000558518.5:c.1502dup ENSP00000454071.1:p.Asp502GlyfsTer?
ENST00000559340.1:c.223dup
NM_000527.4:c.1502dup , LRG_274t1:c.1502dup NP_000518.1:p.Asp502GlyfsTer?
NM_001195798.1:c.1502dup NP_001182727.1:p.Asp502GlyfsTer?
NM_001195799.1:c.1379dup NP_001182728.1:p.Asp461GlyfsTer?
NM_001195800.1:c.998dup NP_001182729.1:p.Asp334GlyfsTer?
NM_001195803.1:c.1121dup NP_001182732.1:p.Asp375GlyfsTer?
XM_011528010.1:c.1502dup XP_011526312.1:p.Asp502GlyfsTer?
XM_011528011.1:c.1121dup XP_011526313.1:p.Asp375GlyfsTer?
XR_244074.2:n.1652dup
XM_011528010.2:c.1502dup XP_011526312.1:p.Asp502GlyfsTer?
XR_001753685.2:n.1619dup
XR_001753686.2:n.1619dup
NM_000527.5:c.1502dup MANE Select NP_000518.1:p.Asp502GlyfsTer?
NM_001195798.2:c.1502dup NP_001182727.1:p.Asp502GlyfsTer?
NM_001195799.2:c.1379dup NP_001182728.1:p.Asp461GlyfsTer?
NM_001195800.2:c.998dup NP_001182729.1:p.Asp334GlyfsTer?
NM_001195803.2:c.1121dup NP_001182732.1:p.Asp375GlyfsTer?