Canonical Allele Identifier: CA10584697
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 250943
ClinVar RCV Id: RCV000237681
dbSNP Id: rs879254365
MyVariant Identifiers: chr19:g.11200070_11200071delinsTTCTGCAAACTCCT (hg19) chr19:g.11089394_11089395delinsTTCTGCAAACTCCT (hg38)
PubMed: PMID:21538688
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT , CM000681.2:g.11089394_11089395delinsTTCTGCAAACTCCT GRCh38
NC_000019.9:g.11200070_11200071delinsTTCTGCAAACTCCT , CM000681.1:g.11200070_11200071delinsTTCTGCAAACTCCT GRCh37
NC_000019.8:g.11061070_11061071delinsTTCTGCAAACTCCT NCBI36
NG_009060.1:g.5014_5015delinsTTCTGCAAACTCCT , LRG_274:g.5014_5015delinsTTCTGCAAACTCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) ENSP00000454071.1:n.-155_-154delinsTTCTGC...
NM_000527.4:c.-155_-154delinsTTCTGCAAACTCCT , LRG_274t1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) NP_000518.1:n.-155_-154delinsTTCTGCAAACTC...
NM_001195798.1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) NP_001182727.1:n.-155_-154delinsTTCTGCAAA...
NM_001195799.1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) NP_001182728.1:n.-155_-154delinsTTCTGCAAA...
NM_001195800.1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) NP_001182729.1:n.-155_-154delinsTTCTGCAAA...
NM_001195803.1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) NP_001182732.1:n.-155_-154delinsTTCTGCAAA...
XM_011528011.1:c.-155_-154delinsTTCTGCAAACTCCT (LDLR) XP_011526313.1:n.-155_-154delinsTTCTGCAAA...
NR_163945.1:n.265_266delinsAGGAGTTTGCAGAA (LDLR-AS1)
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