Canonical Allele Identifier: CA2695228135
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110656del , CM000681.2:g.11110656del GRCh38
NC_000019.9:g.11221332del , CM000681.1:g.11221332del GRCh37
NC_000019.8:g.11082332del NCBI36
NG_009060.1:g.26276del , LRG_274:g.26276del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1203del ENSP00000252444.6:p.Asn402ThrfsTer?
ENST00000559340.2:c.945del ENSP00000453696.2:p.Asn316ThrfsTer?
ENST00000560467.2:c.941-858del ENSP00000453513.2:n.941-858del
ENST00000558518.6:c.945del MANE Select ENSP00000454071.1:p.Asn316ThrfsTer?
ENST00000252444.9:c.1199del
ENST00000455727.6:c.441del ENSP00000397829.2:p.Asn148ThrfsTer?
ENST00000535915.5:c.822del ENSP00000440520.1:p.Asn275ThrfsTer?
ENST00000545707.5:c.564del ENSP00000437639.1:p.Asn189ThrfsTer?
ENST00000557933.5:c.945del ENSP00000453557.1:p.Asn316ThrfsTer?
ENST00000558013.5:c.945del ENSP00000453346.1:p.Asn316ThrfsTer?
ENST00000558518.5:c.945del ENSP00000454071.1:p.Asn316ThrfsTer?
ENST00000560467.1:c.541-858del
NM_000527.4:c.945del , LRG_274t1:c.945del NP_000518.1:p.Asn316ThrfsTer?
NM_001195798.1:c.945del NP_001182727.1:p.Asn316ThrfsTer?
NM_001195799.1:c.822del NP_001182728.1:p.Asn275ThrfsTer?
NM_001195800.1:c.441del NP_001182729.1:p.Asn148ThrfsTer?
NM_001195803.1:c.564del NP_001182732.1:p.Asn189ThrfsTer?
XM_011528010.1:c.945del XP_011526312.1:p.Asn316ThrfsTer?
XM_011528011.1:c.564del XP_011526313.1:p.Asn189ThrfsTer?
XR_244074.2:n.1095del
XM_011528010.2:c.945del XP_011526312.1:p.Asn316ThrfsTer?
XR_001753685.2:n.1062del
XR_001753686.2:n.1062del
NM_000527.5:c.945del MANE Select NP_000518.1:p.Asn316ThrfsTer?
NM_001195798.2:c.945del NP_001182727.1:p.Asn316ThrfsTer?
NM_001195799.2:c.822del NP_001182728.1:p.Asn275ThrfsTer?
NM_001195800.2:c.441del NP_001182729.1:p.Asn148ThrfsTer?
NM_001195803.2:c.564del NP_001182732.1:p.Asn189ThrfsTer?