Canonical Allele Identifier: CA645509303
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440700
dbSNP Id: rs1555809594

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129623del , CM000681.2:g.11129623del GRCh38
NC_000019.9:g.11240299del , CM000681.1:g.11240299del GRCh37
NC_000019.8:g.11101299del NCBI36
NG_009060.1:g.45243del , LRG_274:g.45243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2758del ENSP00000252444.6:p.Asp920MetfsTer?
ENST00000559340.2:c.*569del ENSP00000453696.2:n.*569del
ENST00000560467.2:c.2380del ENSP00000453513.2:p.Asp794MetfsTer?
ENST00000558518.6:c.2500del MANE Select ENSP00000454071.1:p.Asp834MetfsTer?
ENST00000252444.9:c.2754del
ENST00000455727.6:c.1996del ENSP00000397829.2:p.Asp666MetfsTer?
ENST00000535915.5:c.2377del ENSP00000440520.1:p.Asp793MetfsTer?
ENST00000545707.5:c.1966del ENSP00000437639.1:p.Asp656MetfsTer?
ENST00000557933.5:c.2562del ENSP00000453557.1:p.Met855Ter
ENST00000558013.5:c.2500del ENSP00000453346.1:p.Asp834MetfsTer?
ENST00000558518.5:c.2500del ENSP00000454071.1:p.Asp834MetfsTer?
ENST00000560628.1:n.108+1969del
NM_000527.4:c.2500del , LRG_274t1:c.2500del NP_000518.1:p.Asp834MetfsTer?
NM_001195798.1:c.2500del NP_001182727.1:p.Asp834MetfsTer?
NM_001195799.1:c.2377del NP_001182728.1:p.Asp793MetfsTer?
NM_001195800.1:c.1996del NP_001182729.1:p.Asp666MetfsTer?
NM_001195803.1:c.1966del NP_001182732.1:p.Asp656MetfsTer?
XM_011528010.1:c.2422del XP_011526312.1:p.Asp808MetfsTer?
XM_011528011.1:c.2119del XP_011526313.1:p.Asp707MetfsTer?
XM_011528010.2:c.2422del XP_011526312.1:p.Asp808MetfsTer?
XR_001753685.2:n.2834del
XR_001753686.2:n.2477del
NM_000527.5:c.2500del MANE Select NP_000518.1:p.Asp834MetfsTer?
NM_001195798.2:c.2500del NP_001182727.1:p.Asp834MetfsTer?
NM_001195799.2:c.2377del NP_001182728.1:p.Asp793MetfsTer?
NM_001195800.2:c.1996del NP_001182729.1:p.Asp666MetfsTer?
NM_001195803.2:c.1966del NP_001182732.1:p.Asp656MetfsTer?