Canonical Allele Identifier: CA658824386

Gene: LDLR

Linked Data

• ClinVar Variation Id: 548101
• ClinVar RCV Id: RCV000660740

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100222_11102787del , CM000681.2:g.11100222_11102787del	GRCh38
NC_000019.9:g.11210898_11213463del , CM000681.1:g.11210898_11213463del	GRCh37
NC_000019.8:g.11071898_11074463del	NCBI36
NG_009060.1:g.15842_18407del , LRG_274:g.15842_18407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.326-1_571+1del
ENST00000559340.2:c.68-1_313+1del
ENST00000560467.2:c.68-1_313+1del
ENST00000558518.6:c.68-1_313+1del
ENST00000252444.9:c.322-1_567+1del
ENST00000455727.6:c.68-1_313+1del
ENST00000535915.5:c.68-1_191-2433del
ENST00000545707.5:c.68-1_313+1del
ENST00000557933.5:c.68-1_313+1del
ENST00000557958.1:n.154-1_400del
ENST00000558013.5:c.68-1_313+1del
ENST00000558518.5:c.68-1_313+1del
NM_000527.4:c.68-1_313+1del , LRG_274t1:c.68-1_313+1del
NM_001195798.1:c.68-1_313+1del
NM_001195799.1:c.68-1_191-2433del
NM_001195800.1:c.68-1_313+1del
NM_001195803.1:c.68-1_313+1del
XM_011528010.1:c.68-1_313+1del
XM_011528011.1:c.68-1_313+1del
XR_244074.2:n.218-1_463+1del
XM_011528010.2:c.68-1_313+1del
XR_001753685.2:n.185-1_430+1del
XR_001753686.2:n.185-1_430+1del
NM_000527.5:c.68-1_313+1del
NM_001195798.2:c.68-1_313+1del
NM_001195799.2:c.68-1_191-2433del
NM_001195800.2:c.68-1_313+1del
NM_001195803.2:c.68-1_313+1del