Canonical Allele Identifier: CA2322767543
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105523_11105545delinsGTGGCGAGTGCATCCACTCCAGC , CM000681.2:g.11105523_11105545delinsGTGGCGAGTGCATCCACTCCAGC GRCh38
NC_000019.9:g.11216199_11216221delinsGTGGCGAGTGCATCCACTCCAGC , CM000681.1:g.11216199_11216221delinsGTGGCGAGTGCATCCACTCCAGC GRCh37
NC_000019.8:g.11077199_11077221delinsGTGGCGAGTGCATCCACTCCAGC NCBI36
NG_009060.1:g.21143_21165delinsGTGGCGAGTGCATCCACTCCAGC , LRG_274:g.21143_21165delinsGTGGCGAGTGCATCCACTCCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.875_897delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000252444.6:p.Ser292=
ENST00000559340.2:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000453696.2:p.Ser206=
ENST00000560467.2:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000453513.2:p.Ser206=
ENST00000558518.6:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC MANE Select ENSP00000454071.1:p.Ser206=
ENST00000252444.9:c.871_893delinsGTGGCGAGTGCATCCACTCCAGC
ENST00000455727.6:c.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000397829.2:n.314-1869_314-1847delinsGTGGCGAGTGCATCCACT...
ENST00000535915.5:c.494_516delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000440520.1:p.Ser165=
ENST00000545707.5:c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000437639.1:n.314-1042_314-1020delinsGTGGCGAGTGCATCCACT...
ENST00000557933.5:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000453557.1:p.Ser206=
ENST00000558013.5:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000453346.1:p.Ser206=
ENST00000558518.5:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC ENSP00000454071.1:p.Ser206=
ENST00000560467.1:c.217_239delinsGTGGCGAGTGCATCCACTCCAGC
NM_000527.4:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC , LRG_274t1:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC NP_000518.1:p.Ser206=
NM_001195798.1:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC NP_001182727.1:p.Ser206=
NM_001195799.1:c.494_516delinsGTGGCGAGTGCATCCACTCCAGC NP_001182728.1:p.Ser165=
NM_001195800.1:c.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC NP_001182729.1:n.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCA...
NM_001195803.1:c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC NP_001182732.1:n.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCA...
XM_011528010.1:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC XP_011526312.1:p.Ser206=
XM_011528011.1:c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC XP_011526313.1:n.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCA...
XR_244074.2:n.767_789delinsGTGGCGAGTGCATCCACTCCAGC
XM_011528010.2:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC XP_011526312.1:p.Ser206=
XR_001753685.2:n.734_756delinsGTGGCGAGTGCATCCACTCCAGC
XR_001753686.2:n.734_756delinsGTGGCGAGTGCATCCACTCCAGC
NM_000527.5:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC MANE Select NP_000518.1:p.Ser206=
NM_001195798.2:c.617_639delinsGTGGCGAGTGCATCCACTCCAGC NP_001182727.1:p.Ser206=
NM_001195799.2:c.494_516delinsGTGGCGAGTGCATCCACTCCAGC NP_001182728.1:p.Ser165=
NM_001195800.2:c.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC NP_001182729.1:n.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCA...
NM_001195803.2:c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC NP_001182732.1:n.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCA...