Canonical Allele Identifier: CA658653709
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441226
ClinVar RCV Id: RCV000509219
dbSNP Id: rs1555807356

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120393del , CM000681.2:g.11120393del GRCh38
NC_000019.9:g.11231069del , CM000681.1:g.11231069del GRCh37
NC_000019.8:g.11092069del NCBI36
NG_009060.1:g.36013del , LRG_274:g.36013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2269del ENSP00000252444.6:p.Thr757ProfsTer2
ENST00000559340.2:c.*80del ENSP00000453696.2:n.*80del
ENST00000560467.2:c.1891del ENSP00000453513.2:p.Thr631ProfsTer2
ENST00000558518.6:c.2011del MANE Select ENSP00000454071.1:p.Thr671ProfsTer2
ENST00000252444.9:c.2265del
ENST00000455727.6:c.1507del ENSP00000397829.2:p.Thr503ProfsTer2
ENST00000535915.5:c.1888del ENSP00000440520.1:p.Thr630ProfsTer2
ENST00000545707.5:c.1606+160del ENSP00000437639.1:n.1606+160del
ENST00000557933.5:c.2011del ENSP00000453557.1:p.Thr671ProfsTer2
ENST00000558013.5:c.2011del ENSP00000453346.1:p.Thr671ProfsTer2
ENST00000558518.5:c.2011del ENSP00000454071.1:p.Thr671ProfsTer2
ENST00000559340.1:c.592del
NM_000527.4:c.2011del , LRG_274t1:c.2011del NP_000518.1:p.Thr671ProfsTer2
NM_001195798.1:c.2011del NP_001182727.1:p.Thr671ProfsTer2
NM_001195799.1:c.1888del NP_001182728.1:p.Thr630ProfsTer2
NM_001195800.1:c.1507del NP_001182729.1:p.Thr503ProfsTer2
NM_001195803.1:c.1606+160del NP_001182732.1:n.1606+160del
XM_011528010.1:c.2011del XP_011526312.1:p.Thr671ProfsTer2
XM_011528011.1:c.1630del XP_011526313.1:p.Thr544ProfsTer2
XR_244074.2:n.2021del
XM_011528010.2:c.2011del XP_011526312.1:p.Thr671ProfsTer2
XR_001753685.2:n.2128del
XR_001753686.2:n.1988del
NM_000527.5:c.2011del MANE Select NP_000518.1:p.Thr671ProfsTer2
NM_001195798.2:c.2011del NP_001182727.1:p.Thr671ProfsTer2
NM_001195799.2:c.1888del NP_001182728.1:p.Thr630ProfsTer2
NM_001195800.2:c.1507del NP_001182729.1:p.Thr503ProfsTer2
NM_001195803.2:c.1606+160del NP_001182732.1:n.1606+160del