Canonical Allele Identifier: CA10585753
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252198
ClinVar RCV Id: RCV000238390
dbSNP Id: rs879255125

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120438_11120450del , CM000681.2:g.11120438_11120450del GRCh38
NC_000019.9:g.11231114_11231126del , CM000681.1:g.11231114_11231126del GRCh37
NC_000019.8:g.11092114_11092126del NCBI36
NG_009060.1:g.36058_36070del , LRG_274:g.36058_36070del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2314_2326del ENSP00000252444.6:p.Gln772ThrfsTer19
ENST00000559340.2:c.*125_*137del ENSP00000453696.2:n.*125_*137del
ENST00000560467.2:c.1936_1948del ENSP00000453513.2:p.Gln646ThrfsTer19
ENST00000558518.6:c.2056_2068del MANE Select ENSP00000454071.1:p.Gln686ThrfsTer19
ENST00000252444.9:c.2310_2322del
ENST00000455727.6:c.1552_1564del ENSP00000397829.2:p.Gln518ThrfsTer19
ENST00000535915.5:c.1933_1945del ENSP00000440520.1:p.Gln645ThrfsTer19
ENST00000545707.5:c.1606+205_1606+217del ENSP00000437639.1:n.1606+205_1606+217del
ENST00000557933.5:c.2056_2068del ENSP00000453557.1:p.Gln686ThrfsTer19
ENST00000558013.5:c.2056_2068del ENSP00000453346.1:p.Gln686ThrfsTer19
ENST00000558518.5:c.2056_2068del ENSP00000454071.1:p.Gln686ThrfsTer19
NM_000527.4:c.2056_2068del , LRG_274t1:c.2056_2068del NP_000518.1:p.Gln686ThrfsTer19
NM_001195798.1:c.2056_2068del NP_001182727.1:p.Gln686ThrfsTer19
NM_001195799.1:c.1933_1945del NP_001182728.1:p.Gln645ThrfsTer19
NM_001195800.1:c.1552_1564del NP_001182729.1:p.Gln518ThrfsTer19
NM_001195803.1:c.1606+205_1606+217del NP_001182732.1:n.1606+205_1606+217del
XM_011528010.1:c.2056_2068del XP_011526312.1:p.Gln686ThrfsTer19
XM_011528011.1:c.1675_1687del XP_011526313.1:p.Gln559ThrfsTer19
XR_244074.2:n.2066_2078del
XM_011528010.2:c.2056_2068del XP_011526312.1:p.Gln686ThrfsTer19
XR_001753685.2:n.2173_2185del
XR_001753686.2:n.2033_2045del
NM_000527.5:c.2056_2068del MANE Select NP_000518.1:p.Gln686ThrfsTer19
NM_001195798.2:c.2056_2068del NP_001182727.1:p.Gln686ThrfsTer19
NM_001195799.2:c.1933_1945del NP_001182728.1:p.Gln645ThrfsTer19
NM_001195800.2:c.1552_1564del NP_001182729.1:p.Gln518ThrfsTer19
NM_001195803.2:c.1606+205_1606+217del NP_001182732.1:n.1606+205_1606+217del