Canonical Allele Identifier: CA645509293

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440683
• ClinVar RCV Id: RCV000508892
• dbSNP Id: rs1555808008
• MyVariant Identifiers: chr19:g.11233850_11234020del (hg19) ; chr19:g.11123174_11123344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123174_11123344del , CM000681.2:g.11123174_11123344del	GRCh38
NC_000019.9:g.11233850_11234020del , CM000681.1:g.11233850_11234020del	GRCh37
NC_000019.8:g.11094850_11095020del	NCBI36
NG_009060.1:g.38794_38964del , LRG_274:g.38794_38964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2399_2569del
ENST00000559340.2:c.*210_*380del
ENST00000560467.2:c.2021_2191del
ENST00000558518.6:c.2141_2311del
ENST00000252444.9:c.2395_2565del
ENST00000455727.6:c.1637_1807del
ENST00000535915.5:c.2018_2188del
ENST00000545707.5:c.1607_1777del
ENST00000557933.5:c.2141_2311del
ENST00000558013.5:c.2141_2311del
ENST00000558518.5:c.2141_2311del
NM_000527.4:c.2141_2311del , LRG_274t1:c.2141_2311del
NM_001195798.1:c.2141_2311del
NM_001195799.1:c.2018_2188del
NM_001195800.1:c.1637_1807del
NM_001195803.1:c.1607_1777del
XM_011528010.1:c.2141_2311del
XM_011528011.1:c.1760_1930del
XR_244074.2:n.2151_2321del
XM_011528010.2:c.2141_2311del
XR_001753685.2:n.2475_2645del
XR_001753686.2:n.2118_2288del
NM_000527.5:c.2141_2311del
NM_001195798.2:c.2141_2311del
NM_001195799.2:c.2018_2188del
NM_001195800.2:c.1637_1807del
NM_001195803.2:c.1607_1777del