Canonical Allele Identifier: CA916080197
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 840525
ClinVar RCV Id: RCV001042537 RCV002379508
dbSNP Id: rs2077361078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110677del , CM000681.2:g.11110677del GRCh38
NC_000019.9:g.11221353del , CM000681.1:g.11221353del GRCh37
NC_000019.8:g.11082353del NCBI36
NG_009060.1:g.26297del , LRG_274:g.26297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1224del ENSP00000252444.6:p.Asn408LysfsTer?
ENST00000559340.2:c.966del ENSP00000453696.2:p.Asn322LysfsTer?
ENST00000560467.2:c.941-837del ENSP00000453513.2:n.941-837del
ENST00000558518.6:c.966del MANE Select ENSP00000454071.1:p.Asn322LysfsTer?
ENST00000252444.9:c.1220del
ENST00000455727.6:c.462del ENSP00000397829.2:p.Asn154LysfsTer?
ENST00000535915.5:c.843del ENSP00000440520.1:p.Asn281LysfsTer?
ENST00000545707.5:c.585del ENSP00000437639.1:p.Asn195LysfsTer?
ENST00000557933.5:c.966del ENSP00000453557.1:p.Asn322LysfsTer?
ENST00000558013.5:c.966del ENSP00000453346.1:p.Asn322LysfsTer?
ENST00000558518.5:c.966del ENSP00000454071.1:p.Asn322LysfsTer?
ENST00000560467.1:c.541-837del
NM_000527.4:c.966del , LRG_274t1:c.966del NP_000518.1:p.Asn322LysfsTer?
NM_001195798.1:c.966del NP_001182727.1:p.Asn322LysfsTer?
NM_001195799.1:c.843del NP_001182728.1:p.Asn281LysfsTer?
NM_001195800.1:c.462del NP_001182729.1:p.Asn154LysfsTer?
NM_001195803.1:c.585del NP_001182732.1:p.Asn195LysfsTer?
XM_011528010.1:c.966del XP_011526312.1:p.Asn322LysfsTer?
XM_011528011.1:c.585del XP_011526313.1:p.Asn195LysfsTer?
XR_244074.2:n.1116del
XM_011528010.2:c.966del XP_011526312.1:p.Asn322LysfsTer?
XR_001753685.2:n.1083del
XR_001753686.2:n.1083del
NM_000527.5:c.966del MANE Select NP_000518.1:p.Asn322LysfsTer?
NM_001195798.2:c.966del NP_001182727.1:p.Asn322LysfsTer?
NM_001195799.2:c.843del NP_001182728.1:p.Asn281LysfsTer?
NM_001195800.2:c.462del NP_001182729.1:p.Asn154LysfsTer?
NM_001195803.2:c.585del NP_001182732.1:p.Asn195LysfsTer?
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