Canonical Allele Identifier: CA250473

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3711
• ClinVar RCV Id: RCV000003905
• MyVariant Identifiers: chr19:g.11234271_11242805del (hg19) ; chr19:g.11123595_11132129del (hg38)
• PubMed: PMID:1362925 ; PMID:1372927 ; PMID:2760198 ; PMID:3815525 ; PMID:3924410

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123595_11132129del , CM000681.2:g.11123595_11132129del	GRCh38
NC_000019.9:g.11234271_11242805del , CM000681.1:g.11234271_11242805del	GRCh37
NC_000019.8:g.11095271_11103805del	NCBI36
NG_009060.1:g.39215_47749del , LRG_274:g.39215_47749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2569+251_*813del
ENST00000559340.2:c.*380+251_*1465del
ENST00000560467.2:c.2191+251_*813del
ENST00000558518.6:c.2311+251_*813del
ENST00000252444.9:c.2565+251_3650del
ENST00000558518.5:c.2311+251_*813del
NM_000527.4:c.2311+251_*813del , LRG_274t1:c.2311+251_*813del
NM_001195798.1:c.2311+251_*813del
NM_001195799.1:c.2188+251_*813del
NM_001195800.1:c.1807+251_*813del
NM_001195803.1:c.1777+251_*813del
XM_011528010.1:c.2311+251_*813del
XM_011528011.1:c.1930+251_*813del
XM_011528010.2:c.2311+251_*813del
XR_001753685.2:n.2645+251_3730del
XR_001753686.2:n.2288+251_3373del
NM_000527.5:c.2311+251_*813del
NM_001195798.2:c.2311+251_*813del
NM_001195799.2:c.2188+251_*813del
NM_001195800.2:c.1807+251_*813del
NM_001195803.2:c.1777+251_*813del