Canonical Allele Identifier: CA10654845
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369873
dbSNP Id: rs1057516135

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105373del , CM000681.2:g.11105373del GRCh38
NC_000019.9:g.11216049del , CM000681.1:g.11216049del GRCh37
NC_000019.8:g.11077049del NCBI36
NG_009060.1:g.20993del , LRG_274:g.20993del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.725del ENSP00000252444.6:p.Asn242ThrfsTer?
ENST00000559340.2:c.467del ENSP00000453696.2:p.Asn156ThrfsTer?
ENST00000560467.2:c.467del ENSP00000453513.2:p.Asn156ThrfsTer?
ENST00000558518.6:c.467del MANE Select ENSP00000454071.1:p.Asn156ThrfsTer?
ENST00000252444.9:c.721del
ENST00000455727.6:c.314-2019del ENSP00000397829.2:n.314-2019del
ENST00000535915.5:c.344del ENSP00000440520.1:p.Asn115ThrfsTer?
ENST00000545707.5:c.314-1192del ENSP00000437639.1:n.314-1192del
ENST00000557933.5:c.467del ENSP00000453557.1:p.Asn156ThrfsTer?
ENST00000558013.5:c.467del ENSP00000453346.1:p.Asn156ThrfsTer?
ENST00000558518.5:c.467del ENSP00000454071.1:p.Asn156ThrfsTer?
ENST00000560467.1:c.67del
NM_000527.4:c.467del , LRG_274t1:c.467del NP_000518.1:p.Asn156ThrfsTer?
NM_001195798.1:c.467del NP_001182727.1:p.Asn156ThrfsTer?
NM_001195799.1:c.344del NP_001182728.1:p.Asn115ThrfsTer?
NM_001195800.1:c.314-2019del NP_001182729.1:n.314-2019del
NM_001195803.1:c.314-1192del NP_001182732.1:n.314-1192del
XM_011528010.1:c.467del XP_011526312.1:p.Asn156ThrfsTer?
XM_011528011.1:c.314-1192del XP_011526313.1:n.314-1192del
XR_244074.2:n.617del
XM_011528010.2:c.467del XP_011526312.1:p.Asn156ThrfsTer?
XR_001753685.2:n.584del
XR_001753686.2:n.584del
NM_000527.5:c.467del MANE Select NP_000518.1:p.Asn156ThrfsTer?
NM_001195798.2:c.467del NP_001182727.1:p.Asn156ThrfsTer?
NM_001195799.2:c.344del NP_001182728.1:p.Asn115ThrfsTer?
NM_001195800.2:c.314-2019del NP_001182729.1:n.314-2019del
NM_001195803.2:c.314-1192del NP_001182732.1:n.314-1192del