Canonical Allele Identifier: CA2538004603
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132634_11132635del , CM000681.2:g.11132634_11132635del GRCh38
NC_000019.9:g.11243310_11243311del , CM000681.1:g.11243310_11243311del GRCh37
NC_000019.8:g.11104310_11104311del NCBI36
NG_009060.1:g.48254_48255del , LRG_274:g.48254_48255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1318_*1319del (LDLR) ENSP00000252444.6:n.*1318_*1319del
ENST00000559340.2:c.*1970_*1971del (LDLR) ENSP00000453696.2:n.*1970_*1971del
ENST00000560467.2:c.*1318_*1319del (LDLR) ENSP00000453513.2:n.*1318_*1319del
ENST00000558518.6:c.*1318_*1319del (LDLR) MANE Select ENSP00000454071.1:n.*1318_*1319del
ENST00000252444.9:c.4155_4156del (LDLR)
ENST00000560628.1:n.109-461_109-460del (LDLR)
ENST00000585567.5:c.540-1025_540-1024del (SPC24) ENSP00000468818.1:n.540-1025_540-1024del
NM_000527.4:c.*1318_*1319del , LRG_274t1:c.*1318_*1319del (LDLR) NP_000518.1:n.*1318_*1319del
NM_001195798.1:c.*1318_*1319del (LDLR) NP_001182727.1:n.*1318_*1319del
NM_001195799.1:c.*1318_*1319del (LDLR) NP_001182728.1:n.*1318_*1319del
NM_001195800.1:c.*1318_*1319del (LDLR) NP_001182729.1:n.*1318_*1319del
NM_001195803.1:c.*1318_*1319del (LDLR) NP_001182732.1:n.*1318_*1319del
XM_011528010.1:c.*1318_*1319del (LDLR) XP_011526312.1:n.*1318_*1319del
XM_011528011.1:c.*1318_*1319del (LDLR) XP_011526313.1:n.*1318_*1319del
XM_011528010.2:c.*1318_*1319del (LDLR) XP_011526312.1:n.*1318_*1319del
XR_001753685.2:n.4235_4236del (LDLR)
XR_001753686.2:n.3878_3879del (LDLR)
NM_000527.5:c.*1318_*1319del (LDLR) MANE Select NP_000518.1:n.*1318_*1319del
NM_001195798.2:c.*1318_*1319del (LDLR) NP_001182727.1:n.*1318_*1319del
NM_001195799.2:c.*1318_*1319del (LDLR) NP_001182728.1:n.*1318_*1319del
NM_001195800.2:c.*1318_*1319del (LDLR) NP_001182729.1:n.*1318_*1319del
NM_001195803.2:c.*1318_*1319del (LDLR) NP_001182732.1:n.*1318_*1319del
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