Canonical Allele Identifier: CA2695228113
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106592del , CM000681.2:g.11106592del GRCh38
NC_000019.9:g.11217268del , CM000681.1:g.11217268del GRCh37
NC_000019.8:g.11078268del NCBI36
NG_009060.1:g.22212del , LRG_274:g.22212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.980del ENSP00000252444.6:p.Phe327SerfsTer24
ENST00000559340.2:c.722del ENSP00000453696.2:p.Phe241SerfsTer24
ENST00000560467.2:c.722del ENSP00000453513.2:p.Phe241SerfsTer24
ENST00000558518.6:c.722del MANE Select ENSP00000454071.1:p.Phe241SerfsTer24
ENST00000252444.9:c.976del
ENST00000455727.6:c.314-800del ENSP00000397829.2:n.314-800del
ENST00000535915.5:c.599del ENSP00000440520.1:p.Phe200SerfsTer24
ENST00000545707.5:c.341del ENSP00000437639.1:p.Phe114SerfsTer24
ENST00000557933.5:c.722del ENSP00000453557.1:p.Phe241SerfsTer24
ENST00000558013.5:c.722del ENSP00000453346.1:p.Phe241SerfsTer24
ENST00000558518.5:c.722del ENSP00000454071.1:p.Phe241SerfsTer24
ENST00000558528.1:n.237del
ENST00000560467.1:c.322del
NM_000527.4:c.722del , LRG_274t1:c.722del NP_000518.1:p.Phe241SerfsTer24
NM_001195798.1:c.722del NP_001182727.1:p.Phe241SerfsTer24
NM_001195799.1:c.599del NP_001182728.1:p.Phe200SerfsTer24
NM_001195800.1:c.314-800del NP_001182729.1:n.314-800del
NM_001195803.1:c.341del NP_001182732.1:p.Phe114SerfsTer24
XM_011528010.1:c.722del XP_011526312.1:p.Phe241SerfsTer24
XM_011528011.1:c.341del XP_011526313.1:p.Phe114SerfsTer24
XR_244074.2:n.872del
XM_011528010.2:c.722del XP_011526312.1:p.Phe241SerfsTer24
XR_001753685.2:n.839del
XR_001753686.2:n.839del
NM_000527.5:c.722del MANE Select NP_000518.1:p.Phe241SerfsTer24
NM_001195798.2:c.722del NP_001182727.1:p.Phe241SerfsTer24
NM_001195799.2:c.599del NP_001182728.1:p.Phe200SerfsTer24
NM_001195800.2:c.314-800del NP_001182729.1:n.314-800del
NM_001195803.2:c.341del NP_001182732.1:p.Phe114SerfsTer24