Canonical Allele Identifier: CA10585342

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251703
• ClinVar RCV Id: RCV000237682
• dbSNP Id: rs879254819
• MyVariant Identifiers: chr19:g.11222315del (hg19) ; chr19:g.11111639del (hg38)
• PubMed: PMID:10559517 ; PMID:15823276

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111640del , CM000681.2:g.11111640del	GRCh38
NC_000019.9:g.11222316del , CM000681.1:g.11222316del	GRCh37
NC_000019.8:g.11083316del	NCBI36
NG_009060.1:g.27260del , LRG_274:g.27260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+1del
ENST00000559340.2:c.1186+1del
ENST00000560467.2:c.1066+1del
ENST00000558518.6:c.1186+1del
ENST00000252444.9:c.1440+1del
ENST00000455727.6:c.682+1del
ENST00000535915.5:c.1063+1del
ENST00000545707.5:c.805+1del
ENST00000557933.5:c.1186+1del
ENST00000558013.5:c.1186+1del
ENST00000558518.5:c.1186+1del
ENST00000560173.1:n.185+1del
ENST00000560467.1:c.666+1del
NM_000527.4:c.1186+1del , LRG_274t1:c.1186+1del
NM_001195798.1:c.1186+1del
NM_001195799.1:c.1063+1del
NM_001195800.1:c.682+1del
NM_001195803.1:c.805+1del
XM_011528010.1:c.1186+1del
XM_011528011.1:c.805+1del
XR_244074.2:n.1336+1del
XM_011528010.2:c.1186+1del
XR_001753685.2:n.1303+1del
XR_001753686.2:n.1303+1del
NM_000527.5:c.1186+1del
NM_001195798.2:c.1186+1del
NM_001195799.2:c.1063+1del
NM_001195800.2:c.682+1del
NM_001195803.2:c.805+1del