Canonical Allele Identifier: CA2497030103
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102696_11102699del , CM000681.2:g.11102696_11102699del GRCh38
NC_000019.9:g.11213372_11213375del , CM000681.1:g.11213372_11213375del GRCh37
NC_000019.8:g.11074372_11074375del NCBI36
NG_009060.1:g.18316_18319del , LRG_274:g.18316_18319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.481_484del ENSP00000252444.6:p.Cys161GlyfsTer?
ENST00000559340.2:c.223_226del ENSP00000453696.2:p.Cys75GlyfsTer?
ENST00000560467.2:c.223_226del ENSP00000453513.2:p.Cys75GlyfsTer?
ENST00000558518.6:c.223_226del MANE Select ENSP00000454071.1:p.Cys75GlyfsTer?
ENST00000252444.9:c.477_480del
ENST00000455727.6:c.223_226del ENSP00000397829.2:p.Cys75GlyfsTer30
ENST00000535915.5:c.190+2351_190+2354del ENSP00000440520.1:n.190+2351_190+2354del
ENST00000545707.5:c.223_226del ENSP00000437639.1:p.Cys75GlyfsTer?
ENST00000557933.5:c.223_226del ENSP00000453557.1:p.Cys75GlyfsTer?
ENST00000557958.1:n.309_312del
ENST00000558013.5:c.223_226del ENSP00000453346.1:p.Cys75GlyfsTer?
ENST00000558518.5:c.223_226del ENSP00000454071.1:p.Cys75GlyfsTer?
NM_000527.4:c.223_226del , LRG_274t1:c.223_226del NP_000518.1:p.Cys75GlyfsTer?
NM_001195798.1:c.223_226del NP_001182727.1:p.Cys75GlyfsTer?
NM_001195799.1:c.190+2351_190+2354del NP_001182728.1:n.190+2351_190+2354del
NM_001195800.1:c.223_226del NP_001182729.1:p.Cys75GlyfsTer30
NM_001195803.1:c.223_226del NP_001182732.1:p.Cys75GlyfsTer?
XM_011528010.1:c.223_226del XP_011526312.1:p.Cys75GlyfsTer?
XM_011528011.1:c.223_226del XP_011526313.1:p.Cys75GlyfsTer?
XR_244074.2:n.373_376del
XM_011528010.2:c.223_226del XP_011526312.1:p.Cys75GlyfsTer?
XR_001753685.2:n.340_343del
XR_001753686.2:n.340_343del
NM_000527.5:c.223_226del MANE Select NP_000518.1:p.Cys75GlyfsTer?
NM_001195798.2:c.223_226del NP_001182727.1:p.Cys75GlyfsTer?
NM_001195799.2:c.190+2351_190+2354del NP_001182728.1:n.190+2351_190+2354del
NM_001195800.2:c.223_226del NP_001182729.1:p.Cys75GlyfsTer30
NM_001195803.2:c.223_226del NP_001182732.1:p.Cys75GlyfsTer?