Canonical Allele Identifier: CA915952547
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 647342
ClinVar RCV Id: RCV000801832 RCV001256970
dbSNP Id: rs1600727337
gnomAD v4: 19-11113556-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113558del , CM000681.2:g.11113558del GRCh38
NC_000019.9:g.11224234del , CM000681.1:g.11224234del GRCh37
NC_000019.8:g.11085234del NCBI36
NG_009060.1:g.29178del , LRG_274:g.29178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1640del ENSP00000252444.6:p.Gly547AlafsTer?
ENST00000559340.2:c.1382del ENSP00000453696.2:p.Gly461AlafsTer?
ENST00000560467.2:c.1262del ENSP00000453513.2:p.Gly421AlafsTer?
ENST00000558518.6:c.1382del MANE Select ENSP00000454071.1:p.Gly461AlafsTer?
ENST00000252444.9:c.1636del
ENST00000455727.6:c.878del ENSP00000397829.2:p.Gly293AlafsTer?
ENST00000535915.5:c.1259del ENSP00000440520.1:p.Gly420AlafsTer?
ENST00000545707.5:c.1001del ENSP00000437639.1:p.Gly334AlafsTer?
ENST00000557933.5:c.1382del ENSP00000453557.1:p.Gly461AlafsTer?
ENST00000558013.5:c.1382del ENSP00000453346.1:p.Gly461AlafsTer?
ENST00000558518.5:c.1382del ENSP00000454071.1:p.Gly461AlafsTer?
ENST00000559340.1:c.103del
ENST00000560467.1:c.862del
NM_000527.4:c.1382del , LRG_274t1:c.1382del NP_000518.1:p.Gly461AlafsTer?
NM_001195798.1:c.1382del NP_001182727.1:p.Gly461AlafsTer?
NM_001195799.1:c.1259del NP_001182728.1:p.Gly420AlafsTer?
NM_001195800.1:c.878del NP_001182729.1:p.Gly293AlafsTer?
NM_001195803.1:c.1001del NP_001182732.1:p.Gly334AlafsTer?
XM_011528010.1:c.1382del XP_011526312.1:p.Gly461AlafsTer?
XM_011528011.1:c.1001del XP_011526313.1:p.Gly334AlafsTer?
XR_244074.2:n.1532del
XM_011528010.2:c.1382del XP_011526312.1:p.Gly461AlafsTer?
XR_001753685.2:n.1499del
XR_001753686.2:n.1499del
NM_000527.5:c.1382del MANE Select NP_000518.1:p.Gly461AlafsTer?
NM_001195798.2:c.1382del NP_001182727.1:p.Gly461AlafsTer?
NM_001195799.2:c.1259del NP_001182728.1:p.Gly420AlafsTer?
NM_001195800.2:c.878del NP_001182729.1:p.Gly293AlafsTer?
NM_001195803.2:c.1001del NP_001182732.1:p.Gly334AlafsTer?
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