Canonical Allele Identifier: CA2497030127
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105582_11105586delinsGT , CM000681.2:g.11105582_11105586delinsGT GRCh38
NC_000019.9:g.11216258_11216262delinsGT , CM000681.1:g.11216258_11216262delinsGT GRCh37
NC_000019.8:g.11077258_11077262delinsGT NCBI36
NG_009060.1:g.21202_21206delinsGT , LRG_274:g.21202_21206delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.934_938delinsGT ENSP00000252444.6:p.Ser312_Asp313delinsVal
ENST00000559340.2:c.676_680delinsGT ENSP00000453696.2:p.Ser226_Asp227delinsVal
ENST00000560467.2:c.676_680delinsGT ENSP00000453513.2:p.Ser226_Asp227delinsVal
ENST00000558518.6:c.676_680delinsGT MANE Select ENSP00000454071.1:p.Ser226_Asp227delinsVal
ENST00000252444.9:c.930_934delinsGT
ENST00000455727.6:c.314-1810_314-1806delinsGT ENSP00000397829.2:n.314-1810_314-1806delinsGT
ENST00000535915.5:c.553_557delinsGT ENSP00000440520.1:p.Ser185_Asp186delinsVal
ENST00000545707.5:c.314-983_314-979delinsGT ENSP00000437639.1:n.314-983_314-979delinsGT
ENST00000557933.5:c.676_680delinsGT ENSP00000453557.1:p.Ser226_Asp227delinsVal
ENST00000558013.5:c.676_680delinsGT ENSP00000453346.1:p.Ser226_Asp227delinsVal
ENST00000558518.5:c.676_680delinsGT ENSP00000454071.1:p.Ser226_Asp227delinsVal
ENST00000560467.1:c.276_280delinsGT
NM_000527.4:c.676_680delinsGT , LRG_274t1:c.676_680delinsGT NP_000518.1:p.Ser226_Asp227delinsVal
NM_001195798.1:c.676_680delinsGT NP_001182727.1:p.Ser226_Asp227delinsVal
NM_001195799.1:c.553_557delinsGT NP_001182728.1:p.Ser185_Asp186delinsVal
NM_001195800.1:c.314-1810_314-1806delinsGT NP_001182729.1:n.314-1810_314-1806delinsGT
NM_001195803.1:c.314-983_314-979delinsGT NP_001182732.1:n.314-983_314-979delinsGT
XM_011528010.1:c.676_680delinsGT XP_011526312.1:p.Ser226_Asp227delinsVal
XM_011528011.1:c.314-983_314-979delinsGT XP_011526313.1:n.314-983_314-979delinsGT
XR_244074.2:n.826_830delinsGT
XM_011528010.2:c.676_680delinsGT XP_011526312.1:p.Ser226_Asp227delinsVal
XR_001753685.2:n.793_797delinsGT
XR_001753686.2:n.793_797delinsGT
NM_000527.5:c.676_680delinsGT MANE Select NP_000518.1:p.Ser226_Asp227delinsVal
NM_001195798.2:c.676_680delinsGT NP_001182727.1:p.Ser226_Asp227delinsVal
NM_001195799.2:c.553_557delinsGT NP_001182728.1:p.Ser185_Asp186delinsVal
NM_001195800.2:c.314-1810_314-1806delinsGT NP_001182729.1:n.314-1810_314-1806delinsGT
NM_001195803.2:c.314-983_314-979delinsGT NP_001182732.1:n.314-983_314-979delinsGT
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