Canonical Allele Identifier: CA16602287
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375770
ClinVar RCV Id: RCV000417311
dbSNP Id: rs1057519648

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089394_11089399del , CM000681.2:g.11089394_11089399del GRCh38
NC_000019.9:g.11200070_11200075del , CM000681.1:g.11200070_11200075del GRCh37
NC_000019.8:g.11061070_11061075del NCBI36
NG_009060.1:g.5014_5019del , LRG_274:g.5014_5019del

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.5:c.-155_-150del (LDLR) ENSP00000454071.1:n.-155_-150del
NM_000527.4:c.-155_-150del , LRG_274t1:c.-155_-150del (LDLR) NP_000518.1:n.-155_-150del
NM_001195798.1:c.-155_-150del (LDLR) NP_001182727.1:n.-155_-150del
NM_001195799.1:c.-155_-150del (LDLR) NP_001182728.1:n.-155_-150del
NM_001195800.1:c.-155_-150del (LDLR) NP_001182729.1:n.-155_-150del
NM_001195803.1:c.-155_-150del (LDLR) NP_001182732.1:n.-155_-150del
XM_011528011.1:c.-155_-150del (LDLR) XP_011526313.1:n.-155_-150del
NR_163945.1:n.261_266del (LDLR-AS1)