Canonical Allele Identifier: CA2322769125
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077330878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11108401_11108402dup , CM000681.2:g.11108401_11108402dup GRCh38
NC_000019.9:g.11219077_11219078dup , CM000681.1:g.11219077_11219078dup GRCh37
NC_000019.8:g.11080077_11080078dup NCBI36
NG_009060.1:g.24021_24022dup , LRG_274:g.24021_24022dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+887_1198+888dup ENSP00000252444.6:n.1198+887_1198+888dup
ENST00000559340.2:c.940+887_940+888dup ENSP00000453696.2:n.940+887_940+888dup
ENST00000560467.2:c.940+887_940+888dup ENSP00000453513.2:n.940+887_940+888dup
ENST00000558518.6:c.940+887_940+888dup MANE Select ENSP00000454071.1:n.940+887_940+888dup
ENST00000252444.9:c.1194+887_1194+888dup
ENST00000455727.6:c.436+887_436+888dup ENSP00000397829.2:n.436+887_436+888dup
ENST00000535915.5:c.817+887_817+888dup ENSP00000440520.1:n.817+887_817+888dup
ENST00000545707.5:c.559+887_559+888dup ENSP00000437639.1:n.559+887_559+888dup
ENST00000557933.5:c.940+887_940+888dup ENSP00000453557.1:n.940+887_940+888dup
ENST00000558013.5:c.940+887_940+888dup ENSP00000453346.1:n.940+887_940+888dup
ENST00000558518.5:c.940+887_940+888dup ENSP00000454071.1:n.940+887_940+888dup
ENST00000560467.1:c.540+887_540+888dup
NM_000527.4:c.940+887_940+888dup , LRG_274t1:c.940+887_940+888dup NP_000518.1:n.940+887_940+888dup
NM_001195798.1:c.940+887_940+888dup NP_001182727.1:n.940+887_940+888dup
NM_001195799.1:c.817+887_817+888dup NP_001182728.1:n.817+887_817+888dup
NM_001195800.1:c.436+887_436+888dup NP_001182729.1:n.436+887_436+888dup
NM_001195803.1:c.559+887_559+888dup NP_001182732.1:n.559+887_559+888dup
XM_011528010.1:c.940+887_940+888dup XP_011526312.1:n.940+887_940+888dup
XM_011528011.1:c.559+887_559+888dup XP_011526313.1:n.559+887_559+888dup
XR_244074.2:n.1090+887_1090+888dup
XM_011528010.2:c.940+887_940+888dup XP_011526312.1:n.940+887_940+888dup
XR_001753685.2:n.1057+887_1057+888dup
XR_001753686.2:n.1057+887_1057+888dup
NM_000527.5:c.940+887_940+888dup MANE Select NP_000518.1:n.940+887_940+888dup
NM_001195798.2:c.940+887_940+888dup NP_001182727.1:n.940+887_940+888dup
NM_001195799.2:c.817+887_817+888dup NP_001182728.1:n.817+887_817+888dup
NM_001195800.2:c.436+887_436+888dup NP_001182729.1:n.436+887_436+888dup
NM_001195803.2:c.559+887_559+888dup NP_001182732.1:n.559+887_559+888dup
Search 100 bp 5'
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