Canonical Allele Identifier: CA2580096281
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1809533
ClinVar RCV Id: RCV002481112

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089549_11089615del , CM000681.2:g.11089549_11089615del GRCh38
NC_000019.9:g.11200225_11200291del , CM000681.1:g.11200225_11200291del GRCh37
NC_000019.8:g.11061225_11061291del NCBI36
NG_009060.1:g.5169_5235del , LRG_274:g.5169_5235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559340.2:c.1_67del (LDLR) ENSP00000453696.2:p.Met1TrpfsTer?
ENST00000560467.2:c.1_67del (LDLR) ENSP00000453513.2:p.Met1TrpfsTer?
ENST00000558518.6:c.1_67del (LDLR) MANE Select ENSP00000454071.1:p.Met1TrpfsTer?
ENST00000455727.6:c.1_67del (LDLR) ENSP00000397829.2:p.Met1TrpfsTer?
ENST00000535915.5:c.1_67del (LDLR) ENSP00000440520.1:p.Met1TrpfsTer?
ENST00000545707.5:c.1_67del (LDLR) ENSP00000437639.1:p.Met1TrpfsTer?
ENST00000557933.5:c.1_67del (LDLR) ENSP00000453557.1:p.Met1TrpfsTer?
ENST00000557958.1:n.87_153del (LDLR)
ENST00000558013.5:c.1_67del (LDLR) ENSP00000453346.1:p.Met1TrpfsTer?
ENST00000558518.5:c.1_67del (LDLR) ENSP00000454071.1:p.Met1TrpfsTer?
ENST00000560502.5:n.87_153del (LDLR)
NM_000527.4:c.1_67del , LRG_274t1:c.1_67del (LDLR) NP_000518.1:p.Met1TrpfsTer?
NM_001195798.1:c.1_67del (LDLR) NP_001182727.1:p.Met1TrpfsTer?
NM_001195799.1:c.1_67del (LDLR) NP_001182728.1:p.Met1TrpfsTer?
NM_001195800.1:c.1_67del (LDLR) NP_001182729.1:p.Met1TrpfsTer?
NM_001195803.1:c.1_67del (LDLR) NP_001182732.1:p.Met1TrpfsTer?
XM_011528010.1:c.1_67del (LDLR) XP_011526312.1:p.Met1TrpfsTer?
XM_011528011.1:c.1_67del (LDLR) XP_011526313.1:p.Met1TrpfsTer?
XR_244074.2:n.151_217del (LDLR)
XM_011528010.2:c.1_67del (LDLR) XP_011526312.1:p.Met1TrpfsTer?
XR_001753685.2:n.118_184del (LDLR)
XR_001753686.2:n.118_184del (LDLR)
NM_000527.5:c.1_67del (LDLR) MANE Select NP_000518.1:p.Met1TrpfsTer?
NM_001195798.2:c.1_67del (LDLR) NP_001182727.1:p.Met1TrpfsTer?
NM_001195799.2:c.1_67del (LDLR) NP_001182728.1:p.Met1TrpfsTer?
NM_001195800.2:c.1_67del (LDLR) NP_001182729.1:p.Met1TrpfsTer?
NM_001195803.2:c.1_67del (LDLR) NP_001182732.1:p.Met1TrpfsTer?
NR_163945.1:n.45_111del (LDLR-AS1)