Canonical Allele Identifier: CA645509295
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440686
dbSNP Id: rs1555808118

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123292dup , CM000681.2:g.11123292dup GRCh38
NC_000019.9:g.11233968dup , CM000681.1:g.11233968dup GRCh37
NC_000019.8:g.11094968dup NCBI36
NG_009060.1:g.38912dup , LRG_274:g.38912dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2517dup ENSP00000252444.6:p.Gly840TrpfsTer28
ENST00000559340.2:c.*328dup ENSP00000453696.2:n.*328dup
ENST00000560467.2:c.2139dup ENSP00000453513.2:p.Gly714TrpfsTer28
ENST00000558518.6:c.2259dup MANE Select ENSP00000454071.1:p.Gly754TrpfsTer28
ENST00000252444.9:c.2513dup
ENST00000455727.6:c.1755dup ENSP00000397829.2:p.Gly586TrpfsTer28
ENST00000535915.5:c.2136dup ENSP00000440520.1:p.Gly713TrpfsTer28
ENST00000545707.5:c.1725dup ENSP00000437639.1:p.Gly576TrpfsTer28
ENST00000557933.5:c.2259dup ENSP00000453557.1:p.Gly754TrpfsTer28
ENST00000558013.5:c.2259dup ENSP00000453346.1:p.Gly754TrpfsTer28
ENST00000558518.5:c.2259dup ENSP00000454071.1:p.Gly754TrpfsTer28
NM_000527.4:c.2259dup , LRG_274t1:c.2259dup NP_000518.1:p.Gly754TrpfsTer28
NM_001195798.1:c.2259dup NP_001182727.1:p.Gly754TrpfsTer28
NM_001195799.1:c.2136dup NP_001182728.1:p.Gly713TrpfsTer28
NM_001195800.1:c.1755dup NP_001182729.1:p.Gly586TrpfsTer28
NM_001195803.1:c.1725dup NP_001182732.1:p.Gly576TrpfsTer28
XM_011528010.1:c.2259dup XP_011526312.1:p.Gly754TrpfsTer?
XM_011528011.1:c.1878dup XP_011526313.1:p.Gly627TrpfsTer28
XR_244074.2:n.2269dup
XM_011528010.2:c.2259dup XP_011526312.1:p.Gly754TrpfsTer?
XR_001753685.2:n.2593dup
XR_001753686.2:n.2236dup
NM_000527.5:c.2259dup MANE Select NP_000518.1:p.Gly754TrpfsTer28
NM_001195798.2:c.2259dup NP_001182727.1:p.Gly754TrpfsTer28
NM_001195799.2:c.2136dup NP_001182728.1:p.Gly713TrpfsTer28
NM_001195800.2:c.1755dup NP_001182729.1:p.Gly586TrpfsTer28
NM_001195803.2:c.1725dup NP_001182732.1:p.Gly576TrpfsTer28