Canonical Allele Identifier: CA2695238669
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107416del , CM000681.2:g.11107416del GRCh38
NC_000019.9:g.11218092del , CM000681.1:g.11218092del GRCh37
NC_000019.8:g.11079092del NCBI36
NG_009060.1:g.23036del , LRG_274:g.23036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1100del ENSP00000252444.6:p.Lys367SerfsTer?
ENST00000559340.2:c.842del ENSP00000453696.2:p.Lys281SerfsTer?
ENST00000560467.2:c.842del ENSP00000453513.2:p.Lys281SerfsTer?
ENST00000558518.6:c.842del MANE Select ENSP00000454071.1:p.Lys281SerfsTer?
ENST00000252444.9:c.1096del
ENST00000455727.6:c.338del ENSP00000397829.2:p.Lys113SerfsTer?
ENST00000535915.5:c.719del ENSP00000440520.1:p.Lys240SerfsTer?
ENST00000545707.5:c.461del ENSP00000437639.1:p.Lys154SerfsTer?
ENST00000557933.5:c.842del ENSP00000453557.1:p.Lys281SerfsTer?
ENST00000558013.5:c.842del ENSP00000453346.1:p.Lys281SerfsTer?
ENST00000558518.5:c.842del ENSP00000454071.1:p.Lys281SerfsTer?
ENST00000558528.1:n.357del
ENST00000560467.1:c.442del
NM_000527.4:c.842del , LRG_274t1:c.842del NP_000518.1:p.Lys281SerfsTer?
NM_001195798.1:c.842del NP_001182727.1:p.Lys281SerfsTer?
NM_001195799.1:c.719del NP_001182728.1:p.Lys240SerfsTer?
NM_001195800.1:c.338del NP_001182729.1:p.Lys113SerfsTer?
NM_001195803.1:c.461del NP_001182732.1:p.Lys154SerfsTer?
XM_011528010.1:c.842del XP_011526312.1:p.Lys281SerfsTer?
XM_011528011.1:c.461del XP_011526313.1:p.Lys154SerfsTer?
XR_244074.2:n.992del
XM_011528010.2:c.842del XP_011526312.1:p.Lys281SerfsTer?
XR_001753685.2:n.959del
XR_001753686.2:n.959del
NM_000527.5:c.842del MANE Select NP_000518.1:p.Lys281SerfsTer?
NM_001195798.2:c.842del NP_001182727.1:p.Lys281SerfsTer?
NM_001195799.2:c.719del NP_001182728.1:p.Lys240SerfsTer?
NM_001195800.2:c.338del NP_001182729.1:p.Lys113SerfsTer?
NM_001195803.2:c.461del NP_001182732.1:p.Lys154SerfsTer?