Canonical Allele Identifier: CA404081661

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251547
• ClinVar RCV Id: RCV000238031
• MyVariant Identifiers: chr19:g.11108359_11112170del (hg38)
• PubMed: PMID:17399720

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11108359_11112170del , CM000681.2:g.11108359_11112170del	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1198+845_1444+531del
ENST00000559340.2:c.940+845_1186+531del
ENST00000560467.2:c.940+845_1066+531del
ENST00000558518.6:c.940+845_1186+531del
ENST00000252444.9:c.1194+845_1440+531del
ENST00000455727.6:c.436+845_682+531del
ENST00000535915.5:c.817+845_1063+531del
ENST00000545707.5:c.559+845_805+531del
ENST00000557933.5:c.940+845_1186+531del
ENST00000558013.5:c.940+845_1186+531del
ENST00000558518.5:c.940+845_1186+531del
ENST00000560467.1:c.540+845_666+531del
NM_000527.4:c.940+845_1186+531del , LRG_274t1:c.940+845_1186+531del
NM_001195798.1:c.940+845_1186+531del
NM_001195799.1:c.817+845_1063+531del
NM_001195800.1:c.436+845_682+531del
NM_001195803.1:c.559+845_805+531del
XM_011528010.1:c.940+845_1186+531del
XM_011528011.1:c.559+845_805+531del
XR_244074.2:n.1090+845_1336+531del
XM_011528010.2:c.940+845_1186+531del
XR_001753685.2:n.1057+845_1303+531del
XR_001753686.2:n.1057+845_1303+531del
NM_000527.5:c.940+845_1186+531del
NM_001195798.2:c.940+845_1186+531del
NM_001195799.2:c.817+845_1063+531del
NM_001195800.2:c.436+845_682+531del
NM_001195803.2:c.559+845_805+531del