Canonical Allele Identifier: CA2580096438
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1771687
ClinVar RCV Id: RCV002389164

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113575_11113576delinsTA , CM000681.2:g.11113575_11113576delinsTA GRCh38
NC_000019.9:g.11224251_11224252delinsTA , CM000681.1:g.11224251_11224252delinsTA GRCh37
NC_000019.8:g.11085251_11085252delinsTA NCBI36
NG_009060.1:g.29195_29196delinsTA , LRG_274:g.29195_29196delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1657_1658delinsTA ENSP00000252444.6:p.Thr553Tyr
ENST00000559340.2:c.1399_1400delinsTA ENSP00000453696.2:p.Thr467Tyr
ENST00000560467.2:c.1279_1280delinsTA ENSP00000453513.2:p.Thr427Tyr
ENST00000558518.6:c.1399_1400delinsTA MANE Select ENSP00000454071.1:p.Thr467Tyr
ENST00000252444.9:c.1653_1654delinsTA
ENST00000455727.6:c.895_896delinsTA ENSP00000397829.2:p.Thr299Tyr
ENST00000535915.5:c.1276_1277delinsTA ENSP00000440520.1:p.Thr426Tyr
ENST00000545707.5:c.1018_1019delinsTA ENSP00000437639.1:p.Thr340Tyr
ENST00000557933.5:c.1399_1400delinsTA ENSP00000453557.1:p.Thr467Tyr
ENST00000558013.5:c.1399_1400delinsTA ENSP00000453346.1:p.Thr467Tyr
ENST00000558518.5:c.1399_1400delinsTA ENSP00000454071.1:p.Thr467Tyr
ENST00000559340.1:c.120_121delinsTA
ENST00000560467.1:c.879_880delinsTA
NM_000527.4:c.1399_1400delinsTA , LRG_274t1:c.1399_1400delinsTA NP_000518.1:p.Thr467Tyr
NM_001195798.1:c.1399_1400delinsTA NP_001182727.1:p.Thr467Tyr
NM_001195799.1:c.1276_1277delinsTA NP_001182728.1:p.Thr426Tyr
NM_001195800.1:c.895_896delinsTA NP_001182729.1:p.Thr299Tyr
NM_001195803.1:c.1018_1019delinsTA NP_001182732.1:p.Thr340Tyr
XM_011528010.1:c.1399_1400delinsTA XP_011526312.1:p.Thr467Tyr
XM_011528011.1:c.1018_1019delinsTA XP_011526313.1:p.Thr340Tyr
XR_244074.2:n.1549_1550delinsTA
XM_011528010.2:c.1399_1400delinsTA XP_011526312.1:p.Thr467Tyr
XR_001753685.2:n.1516_1517delinsTA
XR_001753686.2:n.1516_1517delinsTA
NM_000527.5:c.1399_1400delinsTA MANE Select NP_000518.1:p.Thr467Tyr
NM_001195798.2:c.1399_1400delinsTA NP_001182727.1:p.Thr467Tyr
NM_001195799.2:c.1276_1277delinsTA NP_001182728.1:p.Thr426Tyr
NM_001195800.2:c.895_896delinsTA NP_001182729.1:p.Thr299Tyr
NM_001195803.2:c.1018_1019delinsTA NP_001182732.1:p.Thr340Tyr