Canonical Allele Identifier: CA16616213
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 406168
ClinVar RCV Id: RCV002230769
dbSNP Id: rs1060500987

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113363del , CM000681.2:g.11113363del GRCh38
NC_000019.9:g.11224039del , CM000681.1:g.11224039del GRCh37
NC_000019.8:g.11085039del NCBI36
NG_009060.1:g.28983del , LRG_274:g.28983del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1530del ENSP00000252444.6:p.Asn511ThrfsTer2
ENST00000559340.2:c.1272del ENSP00000453696.2:p.Asn425ThrfsTer2
ENST00000560467.2:c.1152del ENSP00000453513.2:p.Asn385ThrfsTer2
ENST00000558518.6:c.1272del MANE Select ENSP00000454071.1:p.Asn425ThrfsTer2
ENST00000252444.9:c.1526del
ENST00000455727.6:c.768del ENSP00000397829.2:p.Asn257ThrfsTer2
ENST00000535915.5:c.1149del ENSP00000440520.1:p.Asn384ThrfsTer2
ENST00000545707.5:c.891del ENSP00000437639.1:p.Asn298ThrfsTer2
ENST00000557933.5:c.1272del ENSP00000453557.1:p.Asn425ThrfsTer2
ENST00000558013.5:c.1272del ENSP00000453346.1:p.Asn425ThrfsTer2
ENST00000558518.5:c.1272del ENSP00000454071.1:p.Asn425ThrfsTer2
ENST00000560173.1:n.271del
ENST00000560467.1:c.752del
NM_000527.4:c.1272del , LRG_274t1:c.1272del NP_000518.1:p.Asn425ThrfsTer2
NM_001195798.1:c.1272del NP_001182727.1:p.Asn425ThrfsTer2
NM_001195799.1:c.1149del NP_001182728.1:p.Asn384ThrfsTer2
NM_001195800.1:c.768del NP_001182729.1:p.Asn257ThrfsTer2
NM_001195803.1:c.891del NP_001182732.1:p.Asn298ThrfsTer2
XM_011528010.1:c.1272del XP_011526312.1:p.Asn425ThrfsTer2
XM_011528011.1:c.891del XP_011526313.1:p.Asn298ThrfsTer2
XR_244074.2:n.1422del
XM_011528010.2:c.1272del XP_011526312.1:p.Asn425ThrfsTer2
XR_001753685.2:n.1389del
XR_001753686.2:n.1389del
NM_000527.5:c.1272del MANE Select NP_000518.1:p.Asn425ThrfsTer2
NM_001195798.2:c.1272del NP_001182727.1:p.Asn425ThrfsTer2
NM_001195799.2:c.1149del NP_001182728.1:p.Asn384ThrfsTer2
NM_001195800.2:c.768del NP_001182729.1:p.Asn257ThrfsTer2
NM_001195803.2:c.891del NP_001182732.1:p.Asn298ThrfsTer2