Canonical Allele Identifier: CA916084118
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105598_11105599delinsGC , CM000681.2:g.11105598_11105599delinsGC GRCh38
NC_000019.9:g.11216274_11216275delinsGC , CM000681.1:g.11216274_11216275delinsGC GRCh37
NC_000019.8:g.11077274_11077275delinsGC NCBI36
NG_009060.1:g.21218_21219delinsGC , LRG_274:g.21218_21219delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.950_951delinsGC ENSP00000252444.6:p.Cys317=
ENST00000559340.2:c.692_693delinsGC ENSP00000453696.2:p.Cys231=
ENST00000560467.2:c.692_693delinsGC ENSP00000453513.2:p.Cys231=
ENST00000558518.6:c.692_693delinsGC MANE Select ENSP00000454071.1:p.Cys231=
ENST00000252444.9:c.946_947delinsGC
ENST00000455727.6:c.314-1794_314-1793delinsGC ENSP00000397829.2:n.314-1794_314-1793delinsGC
ENST00000535915.5:c.569_570delinsGC ENSP00000440520.1:p.Cys190=
ENST00000545707.5:c.314-967_314-966delinsGC ENSP00000437639.1:n.314-967_314-966delinsGC
ENST00000557933.5:c.692_693delinsGC ENSP00000453557.1:p.Cys231=
ENST00000558013.5:c.692_693delinsGC ENSP00000453346.1:p.Cys231=
ENST00000558518.5:c.692_693delinsGC ENSP00000454071.1:p.Cys231=
ENST00000560467.1:c.292_293delinsGC
NM_000527.4:c.692_693delinsGC , LRG_274t1:c.692_693delinsGC NP_000518.1:p.Cys231=
NM_001195798.1:c.692_693delinsGC NP_001182727.1:p.Cys231=
NM_001195799.1:c.569_570delinsGC NP_001182728.1:p.Cys190=
NM_001195800.1:c.314-1794_314-1793delinsGC NP_001182729.1:n.314-1794_314-1793delinsGC
NM_001195803.1:c.314-967_314-966delinsGC NP_001182732.1:n.314-967_314-966delinsGC
XM_011528010.1:c.692_693delinsGC XP_011526312.1:p.Cys231=
XM_011528011.1:c.314-967_314-966delinsGC XP_011526313.1:n.314-967_314-966delinsGC
XR_244074.2:n.842_843delinsGC
XM_011528010.2:c.692_693delinsGC XP_011526312.1:p.Cys231=
XR_001753685.2:n.809_810delinsGC
XR_001753686.2:n.809_810delinsGC
NM_000527.5:c.692_693delinsGC MANE Select NP_000518.1:p.Cys231=
NM_001195798.2:c.692_693delinsGC NP_001182727.1:p.Cys231=
NM_001195799.2:c.569_570delinsGC NP_001182728.1:p.Cys190=
NM_001195800.2:c.314-1794_314-1793delinsGC NP_001182729.1:n.314-1794_314-1793delinsGC
NM_001195803.2:c.314-967_314-966delinsGC NP_001182732.1:n.314-967_314-966delinsGC