Canonical Allele Identifier: CA2844606113
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089460del , CM000681.2:g.11089460del GRCh38
NC_000019.9:g.11200136del , CM000681.1:g.11200136del GRCh37
NC_000019.8:g.11061136del NCBI36
NG_009060.1:g.5080del , LRG_274:g.5080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.-89del (LDLR) ENSP00000453696.2:n.-89del
ENST00000558518.5:c.-89del (LDLR) ENSP00000454071.1:n.-89del
NM_000527.4:c.-89del , LRG_274t1:c.-89del (LDLR) NP_000518.1:n.-89del
NM_001195798.1:c.-89del (LDLR) NP_001182727.1:n.-89del
NM_001195799.1:c.-89del (LDLR) NP_001182728.1:n.-89del
NM_001195800.1:c.-89del (LDLR) NP_001182729.1:n.-89del
NM_001195803.1:c.-89del (LDLR) NP_001182732.1:n.-89del
XM_011528010.1:c.-89del (LDLR) XP_011526312.1:n.-89del
XM_011528011.1:c.-89del (LDLR) XP_011526313.1:n.-89del
XR_244074.2:n.62del (LDLR)
XM_011528010.2:c.-89del (LDLR) XP_011526312.1:n.-89del
XR_001753685.2:n.29del (LDLR)
XR_001753686.2:n.29del (LDLR)
NR_163945.1:n.203del (LDLR-AS1)