Canonical Allele Identifier: CA10583774
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237870
dbSNP Id: rs878854028

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105285del , CM000681.2:g.11105285del GRCh38
NC_000019.9:g.11215961del , CM000681.1:g.11215961del GRCh37
NC_000019.8:g.11076961del NCBI36
NG_009060.1:g.20905del , LRG_274:g.20905del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.637del ENSP00000252444.6:p.Val213SerfsTer?
ENST00000559340.2:c.379del ENSP00000453696.2:p.Val127SerfsTer?
ENST00000560467.2:c.379del ENSP00000453513.2:p.Val127SerfsTer?
ENST00000558518.6:c.379del MANE Select ENSP00000454071.1:p.Val127SerfsTer?
ENST00000252444.9:c.633del
ENST00000455727.6:c.314-2107del ENSP00000397829.2:n.314-2107del
ENST00000535915.5:c.256del ENSP00000440520.1:p.Val86SerfsTer?
ENST00000545707.5:c.314-1280del ENSP00000437639.1:n.314-1280del
ENST00000557933.5:c.379del ENSP00000453557.1:p.Val127SerfsTer?
ENST00000558013.5:c.379del ENSP00000453346.1:p.Val127SerfsTer?
ENST00000558518.5:c.379del ENSP00000454071.1:p.Val127SerfsTer?
NM_000527.4:c.379del , LRG_274t1:c.379del NP_000518.1:p.Val127SerfsTer?
NM_001195798.1:c.379del NP_001182727.1:p.Val127SerfsTer?
NM_001195799.1:c.256del NP_001182728.1:p.Val86SerfsTer?
NM_001195800.1:c.314-2107del NP_001182729.1:n.314-2107del
NM_001195803.1:c.314-1280del NP_001182732.1:n.314-1280del
XM_011528010.1:c.379del XP_011526312.1:p.Val127SerfsTer?
XM_011528011.1:c.314-1280del XP_011526313.1:n.314-1280del
XR_244074.2:n.529del
XM_011528010.2:c.379del XP_011526312.1:p.Val127SerfsTer?
XR_001753685.2:n.496del
XR_001753686.2:n.496del
NM_000527.5:c.379del MANE Select NP_000518.1:p.Val127SerfsTer?
NM_001195798.2:c.379del NP_001182727.1:p.Val127SerfsTer?
NM_001195799.2:c.256del NP_001182728.1:p.Val86SerfsTer?
NM_001195800.2:c.314-2107del NP_001182729.1:n.314-2107del
NM_001195803.2:c.314-1280del NP_001182732.1:n.314-1280del