Canonical Allele Identifier: CA783241085

Linked Data

dbSNP Id: rs1430841283

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132531_11132532insG , CM000681.2:g.11132531_11132532insG GRCh38
NC_000019.9:g.11243207_11243208insG , CM000681.1:g.11243207_11243208insG GRCh37
NC_000019.8:g.11104207_11104208insG NCBI36
NG_009060.1:g.48151_48152insG , LRG_274:g.48151_48152insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1215_*1216insG (LDLR) ENSP00000252444.6:n.*1215_*1216insG
ENST00000559340.2:c.*1867_*1868insG (LDLR) ENSP00000453696.2:n.*1867_*1868insG
ENST00000560467.2:c.*1215_*1216insG (LDLR) ENSP00000453513.2:n.*1215_*1216insG
ENST00000558518.6:c.*1215_*1216insG (LDLR) MANE Select ENSP00000454071.1:n.*1215_*1216insG
ENST00000252444.9:c.4052_4053insG (LDLR)
ENST00000560628.1:n.109-564_109-563insG (LDLR)
ENST00000585567.5:c.540-925_540-924insC (SPC24) ENSP00000468818.1:n.540-925_540-924insC
NM_000527.4:c.*1215_*1216insG , LRG_274t1:c.*1215_*1216insG (LDLR) NP_000518.1:n.*1215_*1216insG
NM_001195798.1:c.*1215_*1216insG (LDLR) NP_001182727.1:n.*1215_*1216insG
NM_001195799.1:c.*1215_*1216insG (LDLR) NP_001182728.1:n.*1215_*1216insG
NM_001195800.1:c.*1215_*1216insG (LDLR) NP_001182729.1:n.*1215_*1216insG
NM_001195803.1:c.*1215_*1216insG (LDLR) NP_001182732.1:n.*1215_*1216insG
XM_011528010.1:c.*1215_*1216insG (LDLR) XP_011526312.1:n.*1215_*1216insG
XM_011528011.1:c.*1215_*1216insG (LDLR) XP_011526313.1:n.*1215_*1216insG
XM_011528010.2:c.*1215_*1216insG (LDLR) XP_011526312.1:n.*1215_*1216insG
XR_001753685.2:n.4132_4133insG (LDLR)
XR_001753686.2:n.3775_3776insG (LDLR)
NM_000527.5:c.*1215_*1216insG (LDLR) MANE Select NP_000518.1:n.*1215_*1216insG
NM_001195798.2:c.*1215_*1216insG (LDLR) NP_001182727.1:n.*1215_*1216insG
NM_001195799.2:c.*1215_*1216insG (LDLR) NP_001182728.1:n.*1215_*1216insG
NM_001195800.2:c.*1215_*1216insG (LDLR) NP_001182729.1:n.*1215_*1216insG
NM_001195803.2:c.*1215_*1216insG (LDLR) NP_001182732.1:n.*1215_*1216insG