Canonical Allele Identifier: CA2322767416
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105385_11105386delinsGC , CM000681.2:g.11105385_11105386delinsGC GRCh38
NC_000019.9:g.11216061_11216062delinsGC , CM000681.1:g.11216061_11216062delinsGC GRCh37
NC_000019.8:g.11077061_11077062delinsGC NCBI36
NG_009060.1:g.21005_21006delinsGC , LRG_274:g.21005_21006delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.737_738delinsGC ENSP00000252444.6:p.Cys246=
ENST00000559340.2:c.479_480delinsGC ENSP00000453696.2:p.Cys160=
ENST00000560467.2:c.479_480delinsGC ENSP00000453513.2:p.Cys160=
ENST00000558518.6:c.479_480delinsGC MANE Select ENSP00000454071.1:p.Cys160=
ENST00000252444.9:c.733_734delinsGC
ENST00000455727.6:c.314-2007_314-2006delinsGC ENSP00000397829.2:n.314-2007_314-2006delinsGC
ENST00000535915.5:c.356_357delinsGC ENSP00000440520.1:p.Cys119=
ENST00000545707.5:c.314-1180_314-1179delinsGC ENSP00000437639.1:n.314-1180_314-1179delinsGC
ENST00000557933.5:c.479_480delinsGC ENSP00000453557.1:p.Cys160=
ENST00000558013.5:c.479_480delinsGC ENSP00000453346.1:p.Cys160=
ENST00000558518.5:c.479_480delinsGC ENSP00000454071.1:p.Cys160=
ENST00000560467.1:c.79_80delinsGC
NM_000527.4:c.479_480delinsGC , LRG_274t1:c.479_480delinsGC NP_000518.1:p.Cys160=
NM_001195798.1:c.479_480delinsGC NP_001182727.1:p.Cys160=
NM_001195799.1:c.356_357delinsGC NP_001182728.1:p.Cys119=
NM_001195800.1:c.314-2007_314-2006delinsGC NP_001182729.1:n.314-2007_314-2006delinsGC
NM_001195803.1:c.314-1180_314-1179delinsGC NP_001182732.1:n.314-1180_314-1179delinsGC
XM_011528010.1:c.479_480delinsGC XP_011526312.1:p.Cys160=
XM_011528011.1:c.314-1180_314-1179delinsGC XP_011526313.1:n.314-1180_314-1179delinsGC
XR_244074.2:n.629_630delinsGC
XM_011528010.2:c.479_480delinsGC XP_011526312.1:p.Cys160=
XR_001753685.2:n.596_597delinsGC
XR_001753686.2:n.596_597delinsGC
NM_000527.5:c.479_480delinsGC MANE Select NP_000518.1:p.Cys160=
NM_001195798.2:c.479_480delinsGC NP_001182727.1:p.Cys160=
NM_001195799.2:c.356_357delinsGC NP_001182728.1:p.Cys119=
NM_001195800.2:c.314-2007_314-2006delinsGC NP_001182729.1:n.314-2007_314-2006delinsGC
NM_001195803.2:c.314-1180_314-1179delinsGC NP_001182732.1:n.314-1180_314-1179delinsGC