Canonical Allele Identifier: CA10585350

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251726
• ClinVar RCV Id: RCV000238376
• MyVariant Identifiers: chr19:g.11223964_11233914del (hg19) ; chr19:g.11113288_11123238del (hg38)
• PubMed: PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113288_11123238del , CM000681.2:g.11113288_11123238del	GRCh38
NC_000019.9:g.11223964_11233914del , CM000681.1:g.11223964_11233914del	GRCh37
NC_000019.8:g.11084964_11094914del	NCBI36
NG_009060.1:g.28908_38858del , LRG_274:g.28908_38858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1455_2463del
ENST00000559340.2:c.1197_*274del
ENST00000560467.2:c.1077_2085del
ENST00000558518.6:c.1197_2205del
ENST00000252444.9:c.1451_2459del
ENST00000455727.6:c.693_1701del
ENST00000535915.5:c.1074_2082del
ENST00000545707.5:c.816_1671del
ENST00000557933.5:c.1197_2205del
ENST00000558013.5:c.1197_2205del
ENST00000558518.5:c.1197_2205del
NM_000527.4:c.1197_2205del , LRG_274t1:c.1197_2205del
NM_001195798.1:c.1197_2205del
NM_001195799.1:c.1074_2082del
NM_001195800.1:c.693_1701del
NM_001195803.1:c.816_1671del
XM_011528010.1:c.1197_2205del
XM_011528011.1:c.816_1824del
XR_244074.2:n.1347_2215del
XM_011528010.2:c.1197_2205del
XR_001753685.2:n.1314_2539del
XR_001753686.2:n.1314_2182del
NM_000527.5:c.1197_2205del
NM_001195798.2:c.1197_2205del
NM_001195799.2:c.1074_2082del
NM_001195800.2:c.693_1701del
NM_001195803.2:c.816_1671del