Canonical Allele Identifier: CA16602310
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375793
ClinVar RCV Id: RCV000417298
dbSNP Id: rs1057519660

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105586_11105598del , CM000681.2:g.11105586_11105598del GRCh38
NC_000019.9:g.11216262_11216274del , CM000681.1:g.11216262_11216274del GRCh37
NC_000019.8:g.11077262_11077274del NCBI36
NG_009060.1:g.21206_21218del , LRG_274:g.21206_21218del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.938_950del ENSP00000252444.6:p.Asp313AlafsTer?
ENST00000559340.2:c.680_692del ENSP00000453696.2:p.Asp227AlafsTer?
ENST00000560467.2:c.680_692del ENSP00000453513.2:p.Asp227AlafsTer?
ENST00000558518.6:c.680_692del MANE Select ENSP00000454071.1:p.Asp227AlafsTer?
ENST00000252444.9:c.934_946del
ENST00000455727.6:c.314-1806_314-1794del ENSP00000397829.2:n.314-1806_314-1794del
ENST00000535915.5:c.557_569del ENSP00000440520.1:p.Asp186AlafsTer?
ENST00000545707.5:c.314-979_314-967del ENSP00000437639.1:n.314-979_314-967del
ENST00000557933.5:c.680_692del ENSP00000453557.1:p.Asp227AlafsTer?
ENST00000558013.5:c.680_692del ENSP00000453346.1:p.Asp227AlafsTer?
ENST00000558518.5:c.680_692del ENSP00000454071.1:p.Asp227AlafsTer?
ENST00000560467.1:c.280_292del
NM_000527.4:c.680_692del , LRG_274t1:c.680_692del NP_000518.1:p.Asp227AlafsTer?
NM_001195798.1:c.680_692del NP_001182727.1:p.Asp227AlafsTer?
NM_001195799.1:c.557_569del NP_001182728.1:p.Asp186AlafsTer?
NM_001195800.1:c.314-1806_314-1794del NP_001182729.1:n.314-1806_314-1794del
NM_001195803.1:c.314-979_314-967del NP_001182732.1:n.314-979_314-967del
XM_011528010.1:c.680_692del XP_011526312.1:p.Asp227AlafsTer?
XM_011528011.1:c.314-979_314-967del XP_011526313.1:n.314-979_314-967del
XR_244074.2:n.830_842del
XM_011528010.2:c.680_692del XP_011526312.1:p.Asp227AlafsTer?
XR_001753685.2:n.797_809del
XR_001753686.2:n.797_809del
NM_000527.5:c.680_692del MANE Select NP_000518.1:p.Asp227AlafsTer?
NM_001195798.2:c.680_692del NP_001182727.1:p.Asp227AlafsTer?
NM_001195799.2:c.557_569del NP_001182728.1:p.Asp186AlafsTer?
NM_001195800.2:c.314-1806_314-1794del NP_001182729.1:n.314-1806_314-1794del
NM_001195803.2:c.314-979_314-967del NP_001182732.1:n.314-979_314-967del