Canonical Allele Identifier: CA2581939177
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v3: 19-11108298-T-TGTG
gnomAD v4: 19-11108298-T-TGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11108298_11108299insGTG , CM000681.2:g.11108298_11108299insGTG GRCh38
NC_000019.9:g.11218974_11218975insGTG , CM000681.1:g.11218974_11218975insGTG GRCh37
NC_000019.8:g.11079974_11079975insGTG NCBI36
NG_009060.1:g.23918_23919insGTG , LRG_274:g.23918_23919insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+784_1198+785insGTG ENSP00000252444.6:n.1198+784_1198+785insGTG
ENST00000559340.2:c.940+784_940+785insGTG ENSP00000453696.2:n.940+784_940+785insGTG
ENST00000560467.2:c.940+784_940+785insGTG ENSP00000453513.2:n.940+784_940+785insGTG
ENST00000558518.6:c.940+784_940+785insGTG MANE Select ENSP00000454071.1:n.940+784_940+785insGTG
ENST00000252444.9:c.1194+784_1194+785insGTG
ENST00000455727.6:c.436+784_436+785insGTG ENSP00000397829.2:n.436+784_436+785insGTG
ENST00000535915.5:c.817+784_817+785insGTG ENSP00000440520.1:n.817+784_817+785insGTG
ENST00000545707.5:c.559+784_559+785insGTG ENSP00000437639.1:n.559+784_559+785insGTG
ENST00000557933.5:c.940+784_940+785insGTG ENSP00000453557.1:n.940+784_940+785insGTG
ENST00000558013.5:c.940+784_940+785insGTG ENSP00000453346.1:n.940+784_940+785insGTG
ENST00000558518.5:c.940+784_940+785insGTG ENSP00000454071.1:n.940+784_940+785insGTG
ENST00000560467.1:c.540+784_540+785insGTG
NM_000527.4:c.940+784_940+785insGTG , LRG_274t1:c.940+784_940+785insGTG NP_000518.1:n.940+784_940+785insGTG
NM_001195798.1:c.940+784_940+785insGTG NP_001182727.1:n.940+784_940+785insGTG
NM_001195799.1:c.817+784_817+785insGTG NP_001182728.1:n.817+784_817+785insGTG
NM_001195800.1:c.436+784_436+785insGTG NP_001182729.1:n.436+784_436+785insGTG
NM_001195803.1:c.559+784_559+785insGTG NP_001182732.1:n.559+784_559+785insGTG
XM_011528010.1:c.940+784_940+785insGTG XP_011526312.1:n.940+784_940+785insGTG
XM_011528011.1:c.559+784_559+785insGTG XP_011526313.1:n.559+784_559+785insGTG
XR_244074.2:n.1090+784_1090+785insGTG
XM_011528010.2:c.940+784_940+785insGTG XP_011526312.1:n.940+784_940+785insGTG
XR_001753685.2:n.1057+784_1057+785insGTG
XR_001753686.2:n.1057+784_1057+785insGTG
NM_000527.5:c.940+784_940+785insGTG MANE Select NP_000518.1:n.940+784_940+785insGTG
NM_001195798.2:c.940+784_940+785insGTG NP_001182727.1:n.940+784_940+785insGTG
NM_001195799.2:c.817+784_817+785insGTG NP_001182728.1:n.817+784_817+785insGTG
NM_001195800.2:c.436+784_436+785insGTG NP_001182729.1:n.436+784_436+785insGTG
NM_001195803.2:c.559+784_559+785insGTG NP_001182732.1:n.559+784_559+785insGTG
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