Canonical Allele Identifier: CA2573155736
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1686778
ClinVar RCV Id: RCV002248285
dbSNP Id: rs2147241957

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111630_11111634dup , CM000681.2:g.11111630_11111634dup GRCh38
NC_000019.9:g.11222306_11222310dup , CM000681.1:g.11222306_11222310dup GRCh37
NC_000019.8:g.11083306_11083310dup NCBI36
NG_009060.1:g.27250_27254dup , LRG_274:g.27250_27254dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1435_1439dup ENSP00000252444.6:p.Val481ArgfsTer20
ENST00000559340.2:c.1177_1181dup ENSP00000453696.2:p.Val395ArgfsTer20
ENST00000560467.2:c.1057_1061dup ENSP00000453513.2:p.Val355ArgfsTer20
ENST00000558518.6:c.1177_1181dup MANE Select ENSP00000454071.1:p.Val395ArgfsTer20
ENST00000252444.9:c.1431_1435dup
ENST00000455727.6:c.673_677dup ENSP00000397829.2:p.Val227ArgfsTer20
ENST00000535915.5:c.1054_1058dup ENSP00000440520.1:p.Val354ArgfsTer20
ENST00000545707.5:c.796_800dup ENSP00000437639.1:p.Val268ArgfsTer20
ENST00000557933.5:c.1177_1181dup ENSP00000453557.1:p.Val395ArgfsTer20
ENST00000558013.5:c.1177_1181dup ENSP00000453346.1:p.Val395ArgfsTer20
ENST00000558518.5:c.1177_1181dup ENSP00000454071.1:p.Val395ArgfsTer20
ENST00000560173.1:n.176_180dup
ENST00000560467.1:c.657_661dup
NM_000527.4:c.1177_1181dup , LRG_274t1:c.1177_1181dup NP_000518.1:p.Val395ArgfsTer20
NM_001195798.1:c.1177_1181dup NP_001182727.1:p.Val395ArgfsTer20
NM_001195799.1:c.1054_1058dup NP_001182728.1:p.Val354ArgfsTer20
NM_001195800.1:c.673_677dup NP_001182729.1:p.Val227ArgfsTer20
NM_001195803.1:c.796_800dup NP_001182732.1:p.Val268ArgfsTer20
XM_011528010.1:c.1177_1181dup XP_011526312.1:p.Val395ArgfsTer20
XM_011528011.1:c.796_800dup XP_011526313.1:p.Val268ArgfsTer20
XR_244074.2:n.1327_1331dup
XM_011528010.2:c.1177_1181dup XP_011526312.1:p.Val395ArgfsTer20
XR_001753685.2:n.1294_1298dup
XR_001753686.2:n.1294_1298dup
NM_000527.5:c.1177_1181dup MANE Select NP_000518.1:p.Val395ArgfsTer20
NM_001195798.2:c.1177_1181dup NP_001182727.1:p.Val395ArgfsTer20
NM_001195799.2:c.1054_1058dup NP_001182728.1:p.Val354ArgfsTer20
NM_001195800.2:c.673_677dup NP_001182729.1:p.Val227ArgfsTer20
NM_001195803.2:c.796_800dup NP_001182732.1:p.Val268ArgfsTer20