Canonical Allele Identifier: CA10585087

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251401
• ClinVar RCV Id: RCV000238341
• MyVariant Identifiers: chr19:g.11216276_11217241del (hg19) ; chr19:g.11105600_11106565del (hg38)
• PubMed: PMID:8093663

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105600_11106565del , CM000681.2:g.11105600_11106565del	GRCh38
NC_000019.9:g.11216276_11217241del , CM000681.1:g.11216276_11217241del	GRCh37
NC_000019.8:g.11077276_11078241del	NCBI36
NG_009060.1:g.21220_22185del , LRG_274:g.21220_22185del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.952_953del
ENST00000559340.2:c.694_695del
ENST00000560467.2:c.694_695del
ENST00000558518.6:c.694_695del
ENST00000252444.9:c.948_949del
ENST00000455727.6:c.314-1792_314-827del	ENSP00000397829.2:n.314-1792_314-827del
ENST00000535915.5:c.571_572del
ENST00000545707.5:c.314-965_314del
ENST00000557933.5:c.694_695del
ENST00000558013.5:c.694_695del
ENST00000558518.5:c.694_695del
ENST00000560467.1:c.294_295del
NM_000527.4:c.694_695del , LRG_274t1:c.694_695del
NM_001195798.1:c.694_695del
NM_001195799.1:c.571_572del
NM_001195800.1:c.314-1792_314-827del	NP_001182729.1:n.314-1792_314-827del
NM_001195803.1:c.314-965_314del
XM_011528010.1:c.694_695del
XM_011528011.1:c.314-965_314del
XR_244074.2:n.844_845del
XM_011528010.2:c.694_695del
XR_001753685.2:n.811_812del
XR_001753686.2:n.811_812del
NM_000527.5:c.694_695del
NM_001195798.2:c.694_695del
NM_001195799.2:c.571_572del
NM_001195800.2:c.314-1792_314-827del	NP_001182729.1:n.314-1792_314-827del
NM_001195803.2:c.314-965_314del