Canonical Allele Identifier: CA16602325
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375810
ClinVar RCV Id: RCV003581655
dbSNP Id: rs1057519667

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113278del , CM000681.2:g.11113278del GRCh38
NC_000019.9:g.11223954del , CM000681.1:g.11223954del GRCh37
NC_000019.8:g.11084954del NCBI36
NG_009060.1:g.28898del , LRG_274:g.28898del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1445del
ENST00000559340.2:c.1187del
ENST00000560467.2:c.1067del
ENST00000558518.6:c.1187del
ENST00000252444.9:c.1441del
ENST00000455727.6:c.683del
ENST00000535915.5:c.1064del
ENST00000545707.5:c.806del
ENST00000557933.5:c.1187del
ENST00000558013.5:c.1187del
ENST00000558518.5:c.1187del
ENST00000560173.1:n.186del
ENST00000560467.1:c.667del
NM_000527.4:c.1187del , LRG_274t1:c.1187del
NM_001195798.1:c.1187del
NM_001195799.1:c.1064del
NM_001195800.1:c.683del
NM_001195803.1:c.806del
XM_011528010.1:c.1187del
XM_011528011.1:c.806del
XR_244074.2:n.1337del
XM_011528010.2:c.1187del
XR_001753685.2:n.1304del
XR_001753686.2:n.1304del
NM_000527.5:c.1187del
NM_001195798.2:c.1187del
NM_001195799.2:c.1064del
NM_001195800.2:c.683del
NM_001195803.2:c.806del