Canonical Allele Identifier: CA2322759699
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089410_11089411delinsCT , CM000681.2:g.11089410_11089411delinsCT GRCh38
NC_000019.9:g.11200086_11200087delinsCT , CM000681.1:g.11200086_11200087delinsCT GRCh37
NC_000019.8:g.11061086_11061087delinsCT NCBI36
NG_009060.1:g.5030_5031delinsCT , LRG_274:g.5030_5031delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558518.5:c.-139_-138delinsCT (LDLR) ENSP00000454071.1:n.-139_-138delinsCT
NM_000527.4:c.-139_-138delinsCT , LRG_274t1:c.-139_-138delinsCT (LDLR) NP_000518.1:n.-139_-138delinsCT
NM_001195798.1:c.-139_-138delinsCT (LDLR) NP_001182727.1:n.-139_-138delinsCT
NM_001195799.1:c.-139_-138delinsCT (LDLR) NP_001182728.1:n.-139_-138delinsCT
NM_001195800.1:c.-139_-138delinsCT (LDLR) NP_001182729.1:n.-139_-138delinsCT
NM_001195803.1:c.-139_-138delinsCT (LDLR) NP_001182732.1:n.-139_-138delinsCT
XM_011528010.1:c.-139_-138delinsCT (LDLR) XP_011526312.1:n.-139_-138delinsCT
XM_011528011.1:c.-139_-138delinsCT (LDLR) XP_011526313.1:n.-139_-138delinsCT
XR_244074.2:n.12_13delinsCT (LDLR)
NR_163945.1:n.249_250delinsAG (LDLR-AS1)