Canonical Allele Identifier: CA645617878
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105393del , CM000681.2:g.11105393del GRCh38
NC_000019.9:g.11216069del , CM000681.1:g.11216069del GRCh37
NC_000019.8:g.11077069del NCBI36
NG_009060.1:g.21013del , LRG_274:g.21013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.745del ENSP00000252444.6:p.Gln249SerfsTer?
ENST00000559340.2:c.487del ENSP00000453696.2:p.Gln163SerfsTer?
ENST00000560467.2:c.487del ENSP00000453513.2:p.Gln163SerfsTer?
ENST00000558518.6:c.487del MANE Select ENSP00000454071.1:p.Gln163SerfsTer?
ENST00000252444.9:c.741del
ENST00000455727.6:c.314-1999del ENSP00000397829.2:n.314-1999del
ENST00000535915.5:c.364del ENSP00000440520.1:p.Gln122SerfsTer?
ENST00000545707.5:c.314-1172del ENSP00000437639.1:n.314-1172del
ENST00000557933.5:c.487del ENSP00000453557.1:p.Gln163SerfsTer?
ENST00000558013.5:c.487del ENSP00000453346.1:p.Gln163SerfsTer?
ENST00000558518.5:c.487del ENSP00000454071.1:p.Gln163SerfsTer?
ENST00000560467.1:c.87del
NM_000527.4:c.487del , LRG_274t1:c.487del NP_000518.1:p.Gln163SerfsTer?
NM_001195798.1:c.487del NP_001182727.1:p.Gln163SerfsTer?
NM_001195799.1:c.364del NP_001182728.1:p.Gln122SerfsTer?
NM_001195800.1:c.314-1999del NP_001182729.1:n.314-1999del
NM_001195803.1:c.314-1172del NP_001182732.1:n.314-1172del
XM_011528010.1:c.487del XP_011526312.1:p.Gln163SerfsTer?
XM_011528011.1:c.314-1172del XP_011526313.1:n.314-1172del
XR_244074.2:n.637del
XM_011528010.2:c.487del XP_011526312.1:p.Gln163SerfsTer?
XR_001753685.2:n.604del
XR_001753686.2:n.604del
NM_000527.5:c.487del MANE Select NP_000518.1:p.Gln163SerfsTer?
NM_001195798.2:c.487del NP_001182727.1:p.Gln163SerfsTer?
NM_001195799.2:c.364del NP_001182728.1:p.Gln122SerfsTer?
NM_001195800.2:c.314-1999del NP_001182729.1:n.314-1999del
NM_001195803.2:c.314-1172del NP_001182732.1:n.314-1172del