Canonical Allele Identifier: CA2499225316
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120259
ClinVar RCV Id: RCV001450049
dbSNP Id: rs2147241240

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111523_11111524dup , CM000681.2:g.11111523_11111524dup GRCh38
NC_000019.9:g.11222199_11222200dup , CM000681.1:g.11222199_11222200dup GRCh37
NC_000019.8:g.11083199_11083200dup NCBI36
NG_009060.1:g.27143_27144dup , LRG_274:g.27143_27144dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1328_1329dup ENSP00000252444.6:p.Cys444SerfsTer13
ENST00000559340.2:c.1070_1071dup ENSP00000453696.2:p.Cys358SerfsTer13
ENST00000560467.2:c.950_951dup ENSP00000453513.2:p.Cys318SerfsTer13
ENST00000558518.6:c.1070_1071dup MANE Select ENSP00000454071.1:p.Cys358SerfsTer13
ENST00000252444.9:c.1324_1325dup
ENST00000455727.6:c.566_567dup ENSP00000397829.2:p.Cys190SerfsTer13
ENST00000535915.5:c.947_948dup ENSP00000440520.1:p.Cys317SerfsTer13
ENST00000545707.5:c.689_690dup ENSP00000437639.1:p.Cys231SerfsTer13
ENST00000557933.5:c.1070_1071dup ENSP00000453557.1:p.Cys358SerfsTer13
ENST00000558013.5:c.1070_1071dup ENSP00000453346.1:p.Cys358SerfsTer13
ENST00000558518.5:c.1070_1071dup ENSP00000454071.1:p.Cys358SerfsTer13
ENST00000560173.1:n.69_70dup
ENST00000560467.1:c.550_551dup
NM_000527.4:c.1070_1071dup , LRG_274t1:c.1070_1071dup NP_000518.1:p.Cys358SerfsTer13
NM_001195798.1:c.1070_1071dup NP_001182727.1:p.Cys358SerfsTer13
NM_001195799.1:c.947_948dup NP_001182728.1:p.Cys317SerfsTer13
NM_001195800.1:c.566_567dup NP_001182729.1:p.Cys190SerfsTer13
NM_001195803.1:c.689_690dup NP_001182732.1:p.Cys231SerfsTer13
XM_011528010.1:c.1070_1071dup XP_011526312.1:p.Cys358SerfsTer13
XM_011528011.1:c.689_690dup XP_011526313.1:p.Cys231SerfsTer13
XR_244074.2:n.1220_1221dup
XM_011528010.2:c.1070_1071dup XP_011526312.1:p.Cys358SerfsTer13
XR_001753685.2:n.1187_1188dup
XR_001753686.2:n.1187_1188dup
NM_000527.5:c.1070_1071dup MANE Select NP_000518.1:p.Cys358SerfsTer13
NM_001195798.2:c.1070_1071dup NP_001182727.1:p.Cys358SerfsTer13
NM_001195799.2:c.947_948dup NP_001182728.1:p.Cys317SerfsTer13
NM_001195800.2:c.566_567dup NP_001182729.1:p.Cys190SerfsTer13
NM_001195803.2:c.689_690dup NP_001182732.1:p.Cys231SerfsTer13