Canonical Allele Identifier: CA645509291
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440679
ClinVar RCV Id: RCV000508932
dbSNP Id: rs1555807465

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120498_11120499insC , CM000681.2:g.11120498_11120499insC GRCh38
NC_000019.9:g.11231174_11231175insC , CM000681.1:g.11231174_11231175insC GRCh37
NC_000019.8:g.11092174_11092175insC NCBI36
NG_009060.1:g.36118_36119insC , LRG_274:g.36118_36119insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2374_2375insC ENSP00000252444.6:p.Arg792ThrfsTer11
ENST00000559340.2:c.*185_*186insC ENSP00000453696.2:n.*185_*186insC
ENST00000560467.2:c.1996_1997insC ENSP00000453513.2:p.Arg666ThrfsTer11
ENST00000558518.6:c.2116_2117insC MANE Select ENSP00000454071.1:p.Arg706ThrfsTer11
ENST00000252444.9:c.2370_2371insC
ENST00000455727.6:c.1612_1613insC ENSP00000397829.2:p.Arg538ThrfsTer11
ENST00000535915.5:c.1993_1994insC ENSP00000440520.1:p.Arg665ThrfsTer11
ENST00000545707.5:c.1606+265_1606+266insC ENSP00000437639.1:n.1606+265_1606+266insC
ENST00000557933.5:c.2116_2117insC ENSP00000453557.1:p.Arg706ThrfsTer11
ENST00000558013.5:c.2116_2117insC ENSP00000453346.1:p.Arg706ThrfsTer11
ENST00000558518.5:c.2116_2117insC ENSP00000454071.1:p.Arg706ThrfsTer11
NM_000527.4:c.2116_2117insC , LRG_274t1:c.2116_2117insC NP_000518.1:p.Arg706ThrfsTer11
NM_001195798.1:c.2116_2117insC NP_001182727.1:p.Arg706ThrfsTer11
NM_001195799.1:c.1993_1994insC NP_001182728.1:p.Arg665ThrfsTer11
NM_001195800.1:c.1612_1613insC NP_001182729.1:p.Arg538ThrfsTer11
NM_001195803.1:c.1606+265_1606+266insC NP_001182732.1:n.1606+265_1606+266insC
XM_011528010.1:c.2116_2117insC XP_011526312.1:p.Arg706ThrfsTer11
XM_011528011.1:c.1735_1736insC XP_011526313.1:p.Arg579ThrfsTer11
XR_244074.2:n.2126_2127insC
XM_011528010.2:c.2116_2117insC XP_011526312.1:p.Arg706ThrfsTer11
XR_001753685.2:n.2233_2234insC
XR_001753686.2:n.2093_2094insC
NM_000527.5:c.2116_2117insC MANE Select NP_000518.1:p.Arg706ThrfsTer11
NM_001195798.2:c.2116_2117insC NP_001182727.1:p.Arg706ThrfsTer11
NM_001195799.2:c.1993_1994insC NP_001182728.1:p.Arg665ThrfsTer11
NM_001195800.2:c.1612_1613insC NP_001182729.1:p.Arg538ThrfsTer11
NM_001195803.2:c.1606+265_1606+266insC NP_001182732.1:n.1606+265_1606+266insC