Canonical Allele Identifier: CA645509301
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440693
ClinVar RCV Id: RCV000508912
dbSNP Id: rs1555809490

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129525del , CM000681.2:g.11129525del GRCh38
NC_000019.9:g.11240201del , CM000681.1:g.11240201del GRCh37
NC_000019.8:g.11101201del NCBI36
NG_009060.1:g.45145del , LRG_274:g.45145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2660del ENSP00000252444.6:p.Phe887SerfsTer?
ENST00000559340.2:c.*471del ENSP00000453696.2:n.*471del
ENST00000560467.2:c.2282del ENSP00000453513.2:p.Phe761SerfsTer?
ENST00000558518.6:c.2402del MANE Select ENSP00000454071.1:p.Phe801SerfsTer?
ENST00000252444.9:c.2656del
ENST00000455727.6:c.1898del ENSP00000397829.2:p.Phe633SerfsTer?
ENST00000535915.5:c.2279del ENSP00000440520.1:p.Phe760SerfsTer?
ENST00000545707.5:c.1868del ENSP00000437639.1:p.Phe623SerfsTer?
ENST00000557933.5:c.2464del ENSP00000453557.1:p.Ser822ProfsTer15
ENST00000558013.5:c.2402del ENSP00000453346.1:p.Phe801SerfsTer?
ENST00000558518.5:c.2402del ENSP00000454071.1:p.Phe801SerfsTer?
ENST00000560628.1:n.108+1871del
NM_000527.4:c.2402del , LRG_274t1:c.2402del NP_000518.1:p.Phe801SerfsTer?
NM_001195798.1:c.2402del NP_001182727.1:p.Phe801SerfsTer?
NM_001195799.1:c.2279del NP_001182728.1:p.Phe760SerfsTer?
NM_001195800.1:c.1898del NP_001182729.1:p.Phe633SerfsTer?
NM_001195803.1:c.1868del NP_001182732.1:p.Phe623SerfsTer?
XM_011528010.1:c.2324del XP_011526312.1:p.Phe775SerfsTer?
XM_011528011.1:c.2021del XP_011526313.1:p.Phe674SerfsTer?
XR_244074.2:n.2412del
XM_011528010.2:c.2324del XP_011526312.1:p.Phe775SerfsTer?
XR_001753685.2:n.2736del
XR_001753686.2:n.2379del
NM_000527.5:c.2402del MANE Select NP_000518.1:p.Phe801SerfsTer?
NM_001195798.2:c.2402del NP_001182727.1:p.Phe801SerfsTer?
NM_001195799.2:c.2279del NP_001182728.1:p.Phe760SerfsTer?
NM_001195800.2:c.1898del NP_001182729.1:p.Phe633SerfsTer?
NM_001195803.2:c.1868del NP_001182732.1:p.Phe623SerfsTer?