Canonical Allele Identifier: CA645509285
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440659
ClinVar RCV Id: RCV000508734
dbSNP Id: rs1555806448

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116906del , CM000681.2:g.11116906del GRCh38
NC_000019.9:g.11227582del , CM000681.1:g.11227582del GRCh37
NC_000019.8:g.11088582del NCBI36
NG_009060.1:g.32526del , LRG_274:g.32526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2011del ENSP00000252444.6:p.Ile671SerfsTer?
ENST00000559340.2:c.1705+694del ENSP00000453696.2:n.1705+694del
ENST00000560467.2:c.1633del ENSP00000453513.2:p.Ile545SerfsTer?
ENST00000558518.6:c.1753del MANE Select ENSP00000454071.1:p.Ile585SerfsTer?
ENST00000252444.9:c.2007del
ENST00000455727.6:c.1249del ENSP00000397829.2:p.Ile417SerfsTer?
ENST00000535915.5:c.1630del ENSP00000440520.1:p.Ile544SerfsTer?
ENST00000545707.5:c.1372del ENSP00000437639.1:p.Ile458SerfsTer?
ENST00000557933.5:c.1753del ENSP00000453557.1:p.Ile585SerfsTer?
ENST00000558013.5:c.1753del ENSP00000453346.1:p.Ile585SerfsTer?
ENST00000558518.5:c.1753del ENSP00000454071.1:p.Ile585SerfsTer?
ENST00000559340.1:c.426+694del
NM_000527.4:c.1753del , LRG_274t1:c.1753del NP_000518.1:p.Ile585SerfsTer?
NM_001195798.1:c.1753del NP_001182727.1:p.Ile585SerfsTer?
NM_001195799.1:c.1630del NP_001182728.1:p.Ile544SerfsTer?
NM_001195800.1:c.1249del NP_001182729.1:p.Ile417SerfsTer?
NM_001195803.1:c.1372del NP_001182732.1:p.Ile458SerfsTer?
XM_011528010.1:c.1753del XP_011526312.1:p.Ile585SerfsTer?
XM_011528011.1:c.1372del XP_011526313.1:p.Ile458SerfsTer?
XR_244074.2:n.1855+694del
XM_011528010.2:c.1753del XP_011526312.1:p.Ile585SerfsTer?
XR_001753685.2:n.1870del
XR_001753686.2:n.1822+694del
NM_000527.5:c.1753del MANE Select NP_000518.1:p.Ile585SerfsTer?
NM_001195798.2:c.1753del NP_001182727.1:p.Ile585SerfsTer?
NM_001195799.2:c.1630del NP_001182728.1:p.Ile544SerfsTer?
NM_001195800.2:c.1249del NP_001182729.1:p.Ile417SerfsTer?
NM_001195803.2:c.1372del NP_001182732.1:p.Ile458SerfsTer?