Canonical Allele Identifier: CA658824388

Gene: LDLR

Linked Data

• ClinVar Variation Id: 548100
• ClinVar RCV Id: RCV000660739

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102663_11107515del , CM000681.2:g.11102663_11107515del	GRCh38
NC_000019.9:g.11213339_11218191del , CM000681.1:g.11213339_11218191del	GRCh37
NC_000019.8:g.11074339_11079191del	NCBI36
NG_009060.1:g.18283_23135del , LRG_274:g.18283_23135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-1_1198+1del
ENST00000559340.2:c.191-1_940+1del
ENST00000560467.2:c.191-1_940+1del
ENST00000558518.6:c.191-1_940+1del
ENST00000252444.9:c.445-1_1194+1del
ENST00000455727.6:c.191-1_436+1del
ENST00000535915.5:c.190+2318_817+1del
ENST00000545707.5:c.191-1_559+1del
ENST00000557933.5:c.191-1_940+1del
ENST00000558013.5:c.191-1_940+1del
ENST00000558518.5:c.191-1_940+1del
NM_000527.4:c.191-1_940+1del , LRG_274t1:c.191-1_940+1del
NM_001195798.1:c.191-1_940+1del
NM_001195799.1:c.190+2318_817+1del
NM_001195800.1:c.191-1_436+1del
NM_001195803.1:c.191-1_559+1del
XM_011528010.1:c.191-1_940+1del
XM_011528011.1:c.191-1_559+1del
XR_244074.2:n.341-1_1090+1del
XM_011528010.2:c.191-1_940+1del
XR_001753685.2:n.308-1_1057+1del
XR_001753686.2:n.308-1_1057+1del
NM_000527.5:c.191-1_940+1del
NM_001195798.2:c.191-1_940+1del
NM_001195799.2:c.190+2318_817+1del
NM_001195800.2:c.191-1_436+1del
NM_001195803.2:c.191-1_559+1del