Canonical Allele Identifier: CA645373231
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430778
ClinVar RCV Id: RCV000495920
dbSNP Id: rs1131692209

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113632del , CM000681.2:g.11113632del GRCh38
NC_000019.9:g.11224308del , CM000681.1:g.11224308del GRCh37
NC_000019.8:g.11085308del NCBI36
NG_009060.1:g.29252del , LRG_274:g.29252del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1714del ENSP00000252444.6:p.Ser572AlafsTer21
ENST00000559340.2:c.1456del ENSP00000453696.2:p.Ser486AlafsTer21
ENST00000560467.2:c.1336del ENSP00000453513.2:p.Ser446AlafsTer21
ENST00000558518.6:c.1456del MANE Select ENSP00000454071.1:p.Ser486AlafsTer21
ENST00000252444.9:c.1710del
ENST00000455727.6:c.952del ENSP00000397829.2:p.Ser318AlafsTer21
ENST00000535915.5:c.1333del ENSP00000440520.1:p.Ser445AlafsTer21
ENST00000545707.5:c.1075del ENSP00000437639.1:p.Ser359AlafsTer21
ENST00000557933.5:c.1456del ENSP00000453557.1:p.Ser486AlafsTer21
ENST00000558013.5:c.1456del ENSP00000453346.1:p.Ser486AlafsTer21
ENST00000558518.5:c.1456del ENSP00000454071.1:p.Ser486AlafsTer21
ENST00000559340.1:c.177del
NM_000527.4:c.1456del , LRG_274t1:c.1456del NP_000518.1:p.Ser486AlafsTer21
NM_001195798.1:c.1456del NP_001182727.1:p.Ser486AlafsTer21
NM_001195799.1:c.1333del NP_001182728.1:p.Ser445AlafsTer21
NM_001195800.1:c.952del NP_001182729.1:p.Ser318AlafsTer21
NM_001195803.1:c.1075del NP_001182732.1:p.Ser359AlafsTer21
XM_011528010.1:c.1456del XP_011526312.1:p.Ser486AlafsTer21
XM_011528011.1:c.1075del XP_011526313.1:p.Ser359AlafsTer21
XR_244074.2:n.1606del
XM_011528010.2:c.1456del XP_011526312.1:p.Ser486AlafsTer21
XR_001753685.2:n.1573del
XR_001753686.2:n.1573del
NM_000527.5:c.1456del MANE Select NP_000518.1:p.Ser486AlafsTer21
NM_001195798.2:c.1456del NP_001182727.1:p.Ser486AlafsTer21
NM_001195799.2:c.1333del NP_001182728.1:p.Ser445AlafsTer21
NM_001195800.2:c.952del NP_001182729.1:p.Ser318AlafsTer21
NM_001195803.2:c.1075del NP_001182732.1:p.Ser359AlafsTer21