Canonical Allele Identifier: CA916081219
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 851998
ClinVar RCV Id: RCV001056523
dbSNP Id: rs2077412367

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113448del , CM000681.2:g.11113448del GRCh38
NC_000019.9:g.11224124del , CM000681.1:g.11224124del GRCh37
NC_000019.8:g.11085124del NCBI36
NG_009060.1:g.29068del , LRG_274:g.29068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1615del ENSP00000252444.6:p.Ser539AlafsTer?
ENST00000559340.2:c.1357del ENSP00000453696.2:p.Ser453AlafsTer?
ENST00000560467.2:c.1237del ENSP00000453513.2:p.Ser413AlafsTer?
ENST00000558518.6:c.1357del MANE Select ENSP00000454071.1:p.Ser453AlafsTer?
ENST00000252444.9:c.1611del
ENST00000455727.6:c.853del ENSP00000397829.2:p.Ser285AlafsTer?
ENST00000535915.5:c.1234del ENSP00000440520.1:p.Ser412AlafsTer?
ENST00000545707.5:c.976del ENSP00000437639.1:p.Ser326AlafsTer?
ENST00000557933.5:c.1357del ENSP00000453557.1:p.Ser453AlafsTer?
ENST00000558013.5:c.1357del ENSP00000453346.1:p.Ser453AlafsTer?
ENST00000558518.5:c.1357del ENSP00000454071.1:p.Ser453AlafsTer?
ENST00000559340.1:c.78del
ENST00000560173.1:n.356del
ENST00000560467.1:c.837del
NM_000527.4:c.1357del , LRG_274t1:c.1357del NP_000518.1:p.Ser453AlafsTer?
NM_001195798.1:c.1357del NP_001182727.1:p.Ser453AlafsTer?
NM_001195799.1:c.1234del NP_001182728.1:p.Ser412AlafsTer?
NM_001195800.1:c.853del NP_001182729.1:p.Ser285AlafsTer?
NM_001195803.1:c.976del NP_001182732.1:p.Ser326AlafsTer?
XM_011528010.1:c.1357del XP_011526312.1:p.Ser453AlafsTer?
XM_011528011.1:c.976del XP_011526313.1:p.Ser326AlafsTer?
XR_244074.2:n.1507del
XM_011528010.2:c.1357del XP_011526312.1:p.Ser453AlafsTer?
XR_001753685.2:n.1474del
XR_001753686.2:n.1474del
NM_000527.5:c.1357del MANE Select NP_000518.1:p.Ser453AlafsTer?
NM_001195798.2:c.1357del NP_001182727.1:p.Ser453AlafsTer?
NM_001195799.2:c.1234del NP_001182728.1:p.Ser412AlafsTer?
NM_001195800.2:c.853del NP_001182729.1:p.Ser285AlafsTer?
NM_001195803.2:c.976del NP_001182732.1:p.Ser326AlafsTer?