Canonical Allele Identifier: CA2322781890
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI

Linked Data

dbSNP Id: rs2077738603
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132768_11132774del , CM000681.2:g.11132768_11132774del GRCh38
NC_000019.9:g.11243444_11243450del , CM000681.1:g.11243444_11243450del GRCh37
NC_000019.8:g.11104444_11104450del NCBI36
NG_009060.1:g.48388_48394del , LRG_274:g.48388_48394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1452_*1458del (LDLR) ENSP00000252444.6:n.*1452_*1458del
ENST00000559340.2:c.*2104_*2110del (LDLR) ENSP00000453696.2:n.*2104_*2110del
ENST00000560467.2:c.*1452_*1458del (LDLR) ENSP00000453513.2:n.*1452_*1458del
ENST00000558518.6:c.*1452_*1458del (LDLR) MANE Select ENSP00000454071.1:n.*1452_*1458del
ENST00000252444.9:c.4289_4295del (LDLR)
ENST00000560628.1:n.109-327_109-321del (LDLR)
ENST00000585567.5:c.540-1164_540-1158del (SPC24) ENSP00000468818.1:n.540-1164_540-1158del
NM_000527.4:c.*1452_*1458del , LRG_274t1:c.*1452_*1458del (LDLR) NP_000518.1:n.*1452_*1458del
NM_001195798.1:c.*1452_*1458del (LDLR) NP_001182727.1:n.*1452_*1458del
NM_001195799.1:c.*1452_*1458del (LDLR) NP_001182728.1:n.*1452_*1458del
NM_001195800.1:c.*1452_*1458del (LDLR) NP_001182729.1:n.*1452_*1458del
NM_001195803.1:c.*1452_*1458del (LDLR) NP_001182732.1:n.*1452_*1458del
XM_011528010.1:c.*1452_*1458del (LDLR) XP_011526312.1:n.*1452_*1458del
XM_011528011.1:c.*1452_*1458del (LDLR) XP_011526313.1:n.*1452_*1458del
XM_011528010.2:c.*1452_*1458del (LDLR) XP_011526312.1:n.*1452_*1458del
XR_001753685.2:n.4369_4375del (LDLR)
XR_001753686.2:n.4012_4018del (LDLR)
NM_000527.5:c.*1452_*1458del (LDLR) MANE Select NP_000518.1:n.*1452_*1458del
NM_001195798.2:c.*1452_*1458del (LDLR) NP_001182727.1:n.*1452_*1458del
NM_001195799.2:c.*1452_*1458del (LDLR) NP_001182728.1:n.*1452_*1458del
NM_001195800.2:c.*1452_*1458del (LDLR) NP_001182729.1:n.*1452_*1458del
NM_001195803.2:c.*1452_*1458del (LDLR) NP_001182732.1:n.*1452_*1458del
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