Canonical Allele Identifier: CA10585699
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252134
dbSNP Id: rs879255089

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120210del , CM000681.2:g.11120210del GRCh38
NC_000019.9:g.11230886del , CM000681.1:g.11230886del GRCh37
NC_000019.8:g.11091886del NCBI36
NG_009060.1:g.35830del , LRG_274:g.35830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2222del ENSP00000252444.6:p.Phe741SerfsTer10
ENST00000559340.2:c.*33del ENSP00000453696.2:n.*33del
ENST00000560467.2:c.1844del ENSP00000453513.2:p.Phe615SerfsTer10
ENST00000558518.6:c.1964del MANE Select ENSP00000454071.1:p.Phe655SerfsTer10
ENST00000252444.9:c.2218del
ENST00000455727.6:c.1460del ENSP00000397829.2:p.Phe487SerfsTer10
ENST00000535915.5:c.1841del ENSP00000440520.1:p.Phe614SerfsTer10
ENST00000545707.5:c.1583del ENSP00000437639.1:p.Phe528SerfsTer24
ENST00000557933.5:c.1964del ENSP00000453557.1:p.Phe655SerfsTer10
ENST00000558013.5:c.1964del ENSP00000453346.1:p.Phe655SerfsTer10
ENST00000558518.5:c.1964del ENSP00000454071.1:p.Phe655SerfsTer10
ENST00000559340.1:c.545del
NM_000527.4:c.1964del , LRG_274t1:c.1964del NP_000518.1:p.Phe655SerfsTer10
NM_001195798.1:c.1964del NP_001182727.1:p.Phe655SerfsTer10
NM_001195799.1:c.1841del NP_001182728.1:p.Phe614SerfsTer10
NM_001195800.1:c.1460del NP_001182729.1:p.Phe487SerfsTer10
NM_001195803.1:c.1583del NP_001182732.1:p.Phe528SerfsTer24
XM_011528010.1:c.1964del XP_011526312.1:p.Phe655SerfsTer10
XM_011528011.1:c.1583del XP_011526313.1:p.Phe528SerfsTer10
XR_244074.2:n.1974del
XM_011528010.2:c.1964del XP_011526312.1:p.Phe655SerfsTer10
XR_001753685.2:n.2081del
XR_001753686.2:n.1941del
NM_000527.5:c.1964del MANE Select NP_000518.1:p.Phe655SerfsTer10
NM_001195798.2:c.1964del NP_001182727.1:p.Phe655SerfsTer10
NM_001195799.2:c.1841del NP_001182728.1:p.Phe614SerfsTer10
NM_001195800.2:c.1460del NP_001182729.1:p.Phe487SerfsTer10
NM_001195803.2:c.1583del NP_001182732.1:p.Phe528SerfsTer24