Canonical Allele Identifier: CA10585411

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251795
• ClinVar RCV Id: RCV000238514
• dbSNP Id: rs879254868
• MyVariant Identifiers: chr19:g.11224103del (hg19) ; chr19:g.11113427del (hg38)
• PubMed: PMID:7718023 ; PMID:16542394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113427del , CM000681.2:g.11113427del	GRCh38
NC_000019.9:g.11224103del , CM000681.1:g.11224103del	GRCh37
NC_000019.8:g.11085103del	NCBI36
NG_009060.1:g.29047del , LRG_274:g.29047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1594del	ENSP00000252444.6:p.Leu532CysfsTer5
ENST00000559340.2:c.1336del	ENSP00000453696.2:p.Leu446CysfsTer5
ENST00000560467.2:c.1216del	ENSP00000453513.2:p.Leu406CysfsTer5
ENST00000558518.6:c.1336del MANE Select	ENSP00000454071.1:p.Leu446CysfsTer5
ENST00000252444.9:c.1590del
ENST00000455727.6:c.832del	ENSP00000397829.2:p.Leu278CysfsTer5
ENST00000535915.5:c.1213del	ENSP00000440520.1:p.Leu405CysfsTer5
ENST00000545707.5:c.955del	ENSP00000437639.1:p.Leu319CysfsTer5
ENST00000557933.5:c.1336del	ENSP00000453557.1:p.Leu446CysfsTer5
ENST00000558013.5:c.1336del	ENSP00000453346.1:p.Leu446CysfsTer5
ENST00000558518.5:c.1336del	ENSP00000454071.1:p.Leu446CysfsTer5
ENST00000559340.1:c.57del
ENST00000560173.1:n.335del
ENST00000560467.1:c.816del
NM_000527.4:c.1336del , LRG_274t1:c.1336del	NP_000518.1:p.Leu446CysfsTer5
NM_001195798.1:c.1336del	NP_001182727.1:p.Leu446CysfsTer5
NM_001195799.1:c.1213del	NP_001182728.1:p.Leu405CysfsTer5
NM_001195800.1:c.832del	NP_001182729.1:p.Leu278CysfsTer5
NM_001195803.1:c.955del	NP_001182732.1:p.Leu319CysfsTer5
XM_011528010.1:c.1336del	XP_011526312.1:p.Leu446CysfsTer5
XM_011528011.1:c.955del	XP_011526313.1:p.Leu319CysfsTer5
XR_244074.2:n.1486del
XM_011528010.2:c.1336del	XP_011526312.1:p.Leu446CysfsTer5
XR_001753685.2:n.1453del
XR_001753686.2:n.1453del
NM_000527.5:c.1336del MANE Select	NP_000518.1:p.Leu446CysfsTer5
NM_001195798.2:c.1336del	NP_001182727.1:p.Leu446CysfsTer5
NM_001195799.2:c.1213del	NP_001182728.1:p.Leu405CysfsTer5
NM_001195800.2:c.832del	NP_001182729.1:p.Leu278CysfsTer5
NM_001195803.2:c.955del	NP_001182732.1:p.Leu319CysfsTer5