Canonical Allele Identifier: CA10654853
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369872
dbSNP Id: rs1057516134

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120124del , CM000681.2:g.11120124del GRCh38
NC_000019.9:g.11230800del , CM000681.1:g.11230800del GRCh37
NC_000019.8:g.11091800del NCBI36
NG_009060.1:g.35744del , LRG_274:g.35744del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2136del ENSP00000252444.6:p.Ala713ProfsTer?
ENST00000559340.2:c.1738del ENSP00000453696.2:p.Ser580AlafsTer?
ENST00000560467.2:c.1758del ENSP00000453513.2:p.Ala587ProfsTer?
ENST00000558518.6:c.1878del MANE Select ENSP00000454071.1:p.Ala627ProfsTer?
ENST00000252444.9:c.2132del
ENST00000455727.6:c.1374del ENSP00000397829.2:p.Ala459ProfsTer?
ENST00000535915.5:c.1755del ENSP00000440520.1:p.Ala586ProfsTer?
ENST00000545707.5:c.1497del ENSP00000437639.1:p.Ala500ProfsTer?
ENST00000557933.5:c.1878del ENSP00000453557.1:p.Ala627ProfsTer?
ENST00000558013.5:c.1878del ENSP00000453346.1:p.Ala627ProfsTer?
ENST00000558518.5:c.1878del ENSP00000454071.1:p.Ala627ProfsTer?
ENST00000559340.1:c.459del
NM_000527.4:c.1878del , LRG_274t1:c.1878del NP_000518.1:p.Ala627ProfsTer?
NM_001195798.1:c.1878del NP_001182727.1:p.Ala627ProfsTer?
NM_001195799.1:c.1755del NP_001182728.1:p.Ala586ProfsTer?
NM_001195800.1:c.1374del NP_001182729.1:p.Ala459ProfsTer?
NM_001195803.1:c.1497del NP_001182732.1:p.Ala500ProfsTer?
XM_011528010.1:c.1878del XP_011526312.1:p.Ala627ProfsTer?
XM_011528011.1:c.1497del XP_011526313.1:p.Ala500ProfsTer?
XR_244074.2:n.1888del
XM_011528010.2:c.1878del XP_011526312.1:p.Ala627ProfsTer?
XR_001753685.2:n.1995del
XR_001753686.2:n.1855del
NM_000527.5:c.1878del MANE Select NP_000518.1:p.Ala627ProfsTer?
NM_001195798.2:c.1878del NP_001182727.1:p.Ala627ProfsTer?
NM_001195799.2:c.1755del NP_001182728.1:p.Ala586ProfsTer?
NM_001195800.2:c.1374del NP_001182729.1:p.Ala459ProfsTer?
NM_001195803.2:c.1497del NP_001182732.1:p.Ala500ProfsTer?