Canonical Allele Identifier: CA2735608502
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI

Linked Data

dbSNP Id: rs2147293446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132532del , CM000681.2:g.11132532del GRCh38
NC_000019.9:g.11243208del , CM000681.1:g.11243208del GRCh37
NC_000019.8:g.11104208del NCBI36
NG_009060.1:g.48152del , LRG_274:g.48152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1216del (LDLR) ENSP00000252444.6:n.*1216del
ENST00000559340.2:c.*1868del (LDLR) ENSP00000453696.2:n.*1868del
ENST00000560467.2:c.*1216del (LDLR) ENSP00000453513.2:n.*1216del
ENST00000558518.6:c.*1216del (LDLR) MANE Select ENSP00000454071.1:n.*1216del
ENST00000252444.9:c.4053del (LDLR)
ENST00000560628.1:n.109-563del (LDLR)
ENST00000585567.5:c.540-925del (SPC24) ENSP00000468818.1:n.540-925del
NM_000527.4:c.*1216del , LRG_274t1:c.*1216del (LDLR) NP_000518.1:n.*1216del
NM_001195798.1:c.*1216del (LDLR) NP_001182727.1:n.*1216del
NM_001195799.1:c.*1216del (LDLR) NP_001182728.1:n.*1216del
NM_001195800.1:c.*1216del (LDLR) NP_001182729.1:n.*1216del
NM_001195803.1:c.*1216del (LDLR) NP_001182732.1:n.*1216del
XM_011528010.1:c.*1216del (LDLR) XP_011526312.1:n.*1216del
XM_011528011.1:c.*1216del (LDLR) XP_011526313.1:n.*1216del
XM_011528010.2:c.*1216del (LDLR) XP_011526312.1:n.*1216del
XR_001753685.2:n.4133del (LDLR)
XR_001753686.2:n.3776del (LDLR)
NM_000527.5:c.*1216del (LDLR) MANE Select NP_000518.1:n.*1216del
NM_001195798.2:c.*1216del (LDLR) NP_001182727.1:n.*1216del
NM_001195799.2:c.*1216del (LDLR) NP_001182728.1:n.*1216del
NM_001195800.2:c.*1216del (LDLR) NP_001182729.1:n.*1216del
NM_001195803.2:c.*1216del (LDLR) NP_001182732.1:n.*1216del
Search 100 bp 5'
Search 100 bp 3'