Canonical Allele Identifier: CA16602306
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375795
ClinVar RCV Id: RCV000417272
dbSNP Id: rs1057519662

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105572_11105588dup , CM000681.2:g.11105572_11105588dup GRCh38
NC_000019.9:g.11216248_11216264dup , CM000681.1:g.11216248_11216264dup GRCh37
NC_000019.8:g.11077248_11077264dup NCBI36
NG_009060.1:g.21192_21208dup , LRG_274:g.21192_21208dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.924_940dup ENSP00000252444.6:p.Glu314AlafsTer?
ENST00000559340.2:c.666_682dup ENSP00000453696.2:p.Glu228AlafsTer?
ENST00000560467.2:c.666_682dup ENSP00000453513.2:p.Glu228AlafsTer?
ENST00000558518.6:c.666_682dup MANE Select ENSP00000454071.1:p.Glu228AlafsTer?
ENST00000252444.9:c.920_936dup
ENST00000455727.6:c.314-1820_314-1804dup ENSP00000397829.2:n.314-1820_314-1804dup
ENST00000535915.5:c.543_559dup ENSP00000440520.1:p.Glu187AlafsTer?
ENST00000545707.5:c.314-993_314-977dup ENSP00000437639.1:n.314-993_314-977dup
ENST00000557933.5:c.666_682dup ENSP00000453557.1:p.Glu228AlafsTer?
ENST00000558013.5:c.666_682dup ENSP00000453346.1:p.Glu228AlafsTer?
ENST00000558518.5:c.666_682dup ENSP00000454071.1:p.Glu228AlafsTer?
ENST00000560467.1:c.266_282dup
NM_000527.4:c.666_682dup , LRG_274t1:c.666_682dup NP_000518.1:p.Glu228AlafsTer?
NM_001195798.1:c.666_682dup NP_001182727.1:p.Glu228AlafsTer?
NM_001195799.1:c.543_559dup NP_001182728.1:p.Glu187AlafsTer?
NM_001195800.1:c.314-1820_314-1804dup NP_001182729.1:n.314-1820_314-1804dup
NM_001195803.1:c.314-993_314-977dup NP_001182732.1:n.314-993_314-977dup
XM_011528010.1:c.666_682dup XP_011526312.1:p.Glu228AlafsTer?
XM_011528011.1:c.314-993_314-977dup XP_011526313.1:n.314-993_314-977dup
XR_244074.2:n.816_832dup
XM_011528010.2:c.666_682dup XP_011526312.1:p.Glu228AlafsTer?
XR_001753685.2:n.783_799dup
XR_001753686.2:n.783_799dup
NM_000527.5:c.666_682dup MANE Select NP_000518.1:p.Glu228AlafsTer?
NM_001195798.2:c.666_682dup NP_001182727.1:p.Glu228AlafsTer?
NM_001195799.2:c.543_559dup NP_001182728.1:p.Glu187AlafsTer?
NM_001195800.2:c.314-1820_314-1804dup NP_001182729.1:n.314-1820_314-1804dup
NM_001195803.2:c.314-993_314-977dup NP_001182732.1:n.314-993_314-977dup