Canonical Allele Identifier: CA16602346
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375832
ClinVar RCV Id: RCV000417239
dbSNP Id: rs1057519683

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120467del , CM000681.2:g.11120467del GRCh38
NC_000019.9:g.11231143del , CM000681.1:g.11231143del GRCh37
NC_000019.8:g.11092143del NCBI36
NG_009060.1:g.36087del , LRG_274:g.36087del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2343del ENSP00000252444.6:p.Cys782AlafsTer13
ENST00000559340.2:c.*154del ENSP00000453696.2:n.*154del
ENST00000560467.2:c.1965del ENSP00000453513.2:p.Cys656AlafsTer13
ENST00000558518.6:c.2085del MANE Select ENSP00000454071.1:p.Cys696AlafsTer13
ENST00000252444.9:c.2339del
ENST00000455727.6:c.1581del ENSP00000397829.2:p.Cys528AlafsTer13
ENST00000535915.5:c.1962del ENSP00000440520.1:p.Cys655AlafsTer13
ENST00000545707.5:c.1606+234del ENSP00000437639.1:n.1606+234del
ENST00000557933.5:c.2085del ENSP00000453557.1:p.Cys696AlafsTer13
ENST00000558013.5:c.2085del ENSP00000453346.1:p.Cys696AlafsTer13
ENST00000558518.5:c.2085del ENSP00000454071.1:p.Cys696AlafsTer13
NM_000527.4:c.2085del , LRG_274t1:c.2085del NP_000518.1:p.Cys696AlafsTer13
NM_001195798.1:c.2085del NP_001182727.1:p.Cys696AlafsTer13
NM_001195799.1:c.1962del NP_001182728.1:p.Cys655AlafsTer13
NM_001195800.1:c.1581del NP_001182729.1:p.Cys528AlafsTer13
NM_001195803.1:c.1606+234del NP_001182732.1:n.1606+234del
XM_011528010.1:c.2085del XP_011526312.1:p.Cys696AlafsTer13
XM_011528011.1:c.1704del XP_011526313.1:p.Cys569AlafsTer13
XR_244074.2:n.2095del
XM_011528010.2:c.2085del XP_011526312.1:p.Cys696AlafsTer13
XR_001753685.2:n.2202del
XR_001753686.2:n.2062del
NM_000527.5:c.2085del MANE Select NP_000518.1:p.Cys696AlafsTer13
NM_001195798.2:c.2085del NP_001182727.1:p.Cys696AlafsTer13
NM_001195799.2:c.1962del NP_001182728.1:p.Cys655AlafsTer13
NM_001195800.2:c.1581del NP_001182729.1:p.Cys528AlafsTer13
NM_001195803.2:c.1606+234del NP_001182732.1:n.1606+234del