Canonical Allele Identifier: CA10585092

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251407
• ClinVar RCV Id: RCV000237506
• MyVariant Identifiers: chr19:g.11216885_11219249del (hg19) ; chr19:g.11106209_11108573del (hg38)
• PubMed: PMID:22910581

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106209_11108573del , CM000681.2:g.11106209_11108573del	GRCh38
NC_000019.9:g.11216885_11219249del , CM000681.1:g.11216885_11219249del	GRCh37
NC_000019.8:g.11077885_11080249del	NCBI36
NG_009060.1:g.21829_24193del , LRG_274:g.21829_24193del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.953-356_1198+1059del
ENST00000559340.2:c.695-356_940+1059del
ENST00000560467.2:c.695-356_940+1059del
ENST00000558518.6:c.695-356_940+1059del
ENST00000252444.9:c.949-356_1194+1059del
ENST00000455727.6:c.314-1183_436+1059del
ENST00000535915.5:c.572-356_817+1059del
ENST00000545707.5:c.314-356_559+1059del
ENST00000557933.5:c.695-356_940+1059del
ENST00000558013.5:c.695-356_940+1059del
ENST00000558518.5:c.695-356_940+1059del
ENST00000560467.1:c.295-356_540+1059del
NM_000527.4:c.695-356_940+1059del , LRG_274t1:c.695-356_940+1059del
NM_001195798.1:c.695-356_940+1059del
NM_001195799.1:c.572-356_817+1059del
NM_001195800.1:c.314-1183_436+1059del
NM_001195803.1:c.314-356_559+1059del
XM_011528010.1:c.695-356_940+1059del
XM_011528011.1:c.314-356_559+1059del
XR_244074.2:n.845-356_1090+1059del
XM_011528010.2:c.695-356_940+1059del
XR_001753685.2:n.812-356_1057+1059del
XR_001753686.2:n.812-356_1057+1059del
NM_000527.5:c.695-356_940+1059del
NM_001195798.2:c.695-356_940+1059del
NM_001195799.2:c.572-356_817+1059del
NM_001195800.2:c.314-1183_436+1059del
NM_001195803.2:c.314-356_559+1059del