Canonical Allele Identifier: CA2322768966
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077328365
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11108238_11108239insC , CM000681.2:g.11108238_11108239insC GRCh38
NC_000019.9:g.11218914_11218915insC , CM000681.1:g.11218914_11218915insC GRCh37
NC_000019.8:g.11079914_11079915insC NCBI36
NG_009060.1:g.23858_23859insC , LRG_274:g.23858_23859insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+724_1198+725insC ENSP00000252444.6:n.1198+724_1198+725insC
ENST00000559340.2:c.940+724_940+725insC ENSP00000453696.2:n.940+724_940+725insC
ENST00000560467.2:c.940+724_940+725insC ENSP00000453513.2:n.940+724_940+725insC
ENST00000558518.6:c.940+724_940+725insC MANE Select ENSP00000454071.1:n.940+724_940+725insC
ENST00000252444.9:c.1194+724_1194+725insC
ENST00000455727.6:c.436+724_436+725insC ENSP00000397829.2:n.436+724_436+725insC
ENST00000535915.5:c.817+724_817+725insC ENSP00000440520.1:n.817+724_817+725insC
ENST00000545707.5:c.559+724_559+725insC ENSP00000437639.1:n.559+724_559+725insC
ENST00000557933.5:c.940+724_940+725insC ENSP00000453557.1:n.940+724_940+725insC
ENST00000558013.5:c.940+724_940+725insC ENSP00000453346.1:n.940+724_940+725insC
ENST00000558518.5:c.940+724_940+725insC ENSP00000454071.1:n.940+724_940+725insC
ENST00000560467.1:c.540+724_540+725insC
NM_000527.4:c.940+724_940+725insC , LRG_274t1:c.940+724_940+725insC NP_000518.1:n.940+724_940+725insC
NM_001195798.1:c.940+724_940+725insC NP_001182727.1:n.940+724_940+725insC
NM_001195799.1:c.817+724_817+725insC NP_001182728.1:n.817+724_817+725insC
NM_001195800.1:c.436+724_436+725insC NP_001182729.1:n.436+724_436+725insC
NM_001195803.1:c.559+724_559+725insC NP_001182732.1:n.559+724_559+725insC
XM_011528010.1:c.940+724_940+725insC XP_011526312.1:n.940+724_940+725insC
XM_011528011.1:c.559+724_559+725insC XP_011526313.1:n.559+724_559+725insC
XR_244074.2:n.1090+724_1090+725insC
XM_011528010.2:c.940+724_940+725insC XP_011526312.1:n.940+724_940+725insC
XR_001753685.2:n.1057+724_1057+725insC
XR_001753686.2:n.1057+724_1057+725insC
NM_000527.5:c.940+724_940+725insC MANE Select NP_000518.1:n.940+724_940+725insC
NM_001195798.2:c.940+724_940+725insC NP_001182727.1:n.940+724_940+725insC
NM_001195799.2:c.817+724_817+725insC NP_001182728.1:n.817+724_817+725insC
NM_001195800.2:c.436+724_436+725insC NP_001182729.1:n.436+724_436+725insC
NM_001195803.2:c.559+724_559+725insC NP_001182732.1:n.559+724_559+725insC
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