Canonical Allele Identifier: CA2582474195
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110651_11110657del , CM000681.2:g.11110651_11110657del GRCh38
NC_000019.9:g.11221327_11221333del , CM000681.1:g.11221327_11221333del GRCh37
NC_000019.8:g.11082327_11082333del NCBI36
NG_009060.1:g.26271_26277del , LRG_274:g.26271_26277del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1199-1_1204del
ENST00000559340.2:c.941-1_946del
ENST00000560467.2:c.941-863_941-857del ENSP00000453513.2:n.941-863_941-857del
ENST00000558518.6:c.941-1_946del
ENST00000252444.9:c.1195-1_1200del
ENST00000455727.6:c.437-1_442del
ENST00000535915.5:c.818-1_823del
ENST00000545707.5:c.560-1_565del
ENST00000557933.5:c.941-1_946del
ENST00000558013.5:c.941-1_946del
ENST00000558518.5:c.941-1_946del
ENST00000560467.1:c.541-863_541-857del
NM_000527.4:c.941-1_946del , LRG_274t1:c.941-1_946del
NM_001195798.1:c.941-1_946del
NM_001195799.1:c.818-1_823del
NM_001195800.1:c.437-1_442del
NM_001195803.1:c.560-1_565del
XM_011528010.1:c.941-1_946del
XM_011528011.1:c.560-1_565del
XR_244074.2:n.1091-1_1096del
XM_011528010.2:c.941-1_946del
XR_001753685.2:n.1058-1_1063del
XR_001753686.2:n.1058-1_1063del
NM_000527.5:c.941-1_946del
NM_001195798.2:c.941-1_946del
NM_001195799.2:c.818-1_823del
NM_001195800.2:c.437-1_442del
NM_001195803.2:c.560-1_565del