Canonical Allele Identifier: CA10585231
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251576
ClinVar RCV Id: RCV000237196
dbSNP Id: rs879254743

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110679del , CM000681.2:g.11110679del GRCh38
NC_000019.9:g.11221355del , CM000681.1:g.11221355del GRCh37
NC_000019.8:g.11082355del NCBI36
NG_009060.1:g.26299del , LRG_274:g.26299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1226del ENSP00000252444.6:p.Gly409AlafsTer?
ENST00000559340.2:c.968del ENSP00000453696.2:p.Gly323AlafsTer?
ENST00000560467.2:c.941-835del ENSP00000453513.2:n.941-835del
ENST00000558518.6:c.968del MANE Select ENSP00000454071.1:p.Gly323AlafsTer?
ENST00000252444.9:c.1222del
ENST00000455727.6:c.464del ENSP00000397829.2:p.Gly155AlafsTer?
ENST00000535915.5:c.845del ENSP00000440520.1:p.Gly282AlafsTer?
ENST00000545707.5:c.587del ENSP00000437639.1:p.Gly196AlafsTer?
ENST00000557933.5:c.968del ENSP00000453557.1:p.Gly323AlafsTer?
ENST00000558013.5:c.968del ENSP00000453346.1:p.Gly323AlafsTer?
ENST00000558518.5:c.968del ENSP00000454071.1:p.Gly323AlafsTer?
ENST00000560467.1:c.541-835del
NM_000527.4:c.968del , LRG_274t1:c.968del NP_000518.1:p.Gly323AlafsTer?
NM_001195798.1:c.968del NP_001182727.1:p.Gly323AlafsTer?
NM_001195799.1:c.845del NP_001182728.1:p.Gly282AlafsTer?
NM_001195800.1:c.464del NP_001182729.1:p.Gly155AlafsTer?
NM_001195803.1:c.587del NP_001182732.1:p.Gly196AlafsTer?
XM_011528010.1:c.968del XP_011526312.1:p.Gly323AlafsTer?
XM_011528011.1:c.587del XP_011526313.1:p.Gly196AlafsTer?
XR_244074.2:n.1118del
XM_011528010.2:c.968del XP_011526312.1:p.Gly323AlafsTer?
XR_001753685.2:n.1085del
XR_001753686.2:n.1085del
NM_000527.5:c.968del MANE Select NP_000518.1:p.Gly323AlafsTer?
NM_001195798.2:c.968del NP_001182727.1:p.Gly323AlafsTer?
NM_001195799.2:c.845del NP_001182728.1:p.Gly282AlafsTer?
NM_001195800.2:c.464del NP_001182729.1:p.Gly155AlafsTer?
NM_001195803.2:c.587del NP_001182732.1:p.Gly196AlafsTer?