Canonical Allele Identifier: CA645509272
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440615
ClinVar RCV Id: RCV000508714
dbSNP Id: rs1555804443

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110659del , CM000681.2:g.11110659del GRCh38
NC_000019.9:g.11221335del , CM000681.1:g.11221335del GRCh37
NC_000019.8:g.11082335del NCBI36
NG_009060.1:g.26279del , LRG_274:g.26279del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1206del ENSP00000252444.6:p.Asn402LysfsTer?
ENST00000559340.2:c.948del ENSP00000453696.2:p.Asn316LysfsTer?
ENST00000560467.2:c.941-855del ENSP00000453513.2:n.941-855del
ENST00000558518.6:c.948del MANE Select ENSP00000454071.1:p.Asn316LysfsTer?
ENST00000252444.9:c.1202del
ENST00000455727.6:c.444del ENSP00000397829.2:p.Asn148LysfsTer?
ENST00000535915.5:c.825del ENSP00000440520.1:p.Asn275LysfsTer?
ENST00000545707.5:c.567del ENSP00000437639.1:p.Asn189LysfsTer?
ENST00000557933.5:c.948del ENSP00000453557.1:p.Asn316LysfsTer?
ENST00000558013.5:c.948del ENSP00000453346.1:p.Asn316LysfsTer?
ENST00000558518.5:c.948del ENSP00000454071.1:p.Asn316LysfsTer?
ENST00000560467.1:c.541-855del
NM_000527.4:c.948del , LRG_274t1:c.948del NP_000518.1:p.Asn316LysfsTer?
NM_001195798.1:c.948del NP_001182727.1:p.Asn316LysfsTer?
NM_001195799.1:c.825del NP_001182728.1:p.Asn275LysfsTer?
NM_001195800.1:c.444del NP_001182729.1:p.Asn148LysfsTer?
NM_001195803.1:c.567del NP_001182732.1:p.Asn189LysfsTer?
XM_011528010.1:c.948del XP_011526312.1:p.Asn316LysfsTer?
XM_011528011.1:c.567del XP_011526313.1:p.Asn189LysfsTer?
XR_244074.2:n.1098del
XM_011528010.2:c.948del XP_011526312.1:p.Asn316LysfsTer?
XR_001753685.2:n.1065del
XR_001753686.2:n.1065del
NM_000527.5:c.948del MANE Select NP_000518.1:p.Asn316LysfsTer?
NM_001195798.2:c.948del NP_001182727.1:p.Asn316LysfsTer?
NM_001195799.2:c.825del NP_001182728.1:p.Asn275LysfsTer?
NM_001195800.2:c.444del NP_001182729.1:p.Asn148LysfsTer?
NM_001195803.2:c.567del NP_001182732.1:p.Asn189LysfsTer?