Canonical Allele Identifier: CA915951651
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 660717
dbSNP Id: rs1600704961

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102722delinsGG , CM000681.2:g.11102722delinsGG GRCh38
NC_000019.9:g.11213398delinsGG , CM000681.1:g.11213398delinsGG GRCh37
NC_000019.8:g.11074398delinsGG NCBI36
NG_009060.1:g.18342delinsGG , LRG_274:g.18342delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.507delinsGG ENSP00000252444.6:p.Ile169MetfsTer?
ENST00000559340.2:c.249delinsGG ENSP00000453696.2:p.Ile83MetfsTer?
ENST00000560467.2:c.249delinsGG ENSP00000453513.2:p.Ile83MetfsTer?
ENST00000558518.6:c.249delinsGG MANE Select ENSP00000454071.1:p.Ile83MetfsTer?
ENST00000252444.9:c.503delinsGG
ENST00000455727.6:c.249delinsGG ENSP00000397829.2:p.Ile83MetfsTer?
ENST00000535915.5:c.190+2377delinsGG ENSP00000440520.1:n.190+2377delinsGG
ENST00000545707.5:c.249delinsGG ENSP00000437639.1:p.Ile83MetfsTer30
ENST00000557933.5:c.249delinsGG ENSP00000453557.1:p.Ile83MetfsTer?
ENST00000557958.1:n.335delinsGG
ENST00000558013.5:c.249delinsGG ENSP00000453346.1:p.Ile83MetfsTer?
ENST00000558518.5:c.249delinsGG ENSP00000454071.1:p.Ile83MetfsTer?
NM_000527.4:c.249delinsGG , LRG_274t1:c.249delinsGG NP_000518.1:p.Ile83MetfsTer?
NM_001195798.1:c.249delinsGG NP_001182727.1:p.Ile83MetfsTer?
NM_001195799.1:c.190+2377delinsGG NP_001182728.1:n.190+2377delinsGG
NM_001195800.1:c.249delinsGG NP_001182729.1:p.Ile83MetfsTer?
NM_001195803.1:c.249delinsGG NP_001182732.1:p.Ile83MetfsTer30
XM_011528010.1:c.249delinsGG XP_011526312.1:p.Ile83MetfsTer?
XM_011528011.1:c.249delinsGG XP_011526313.1:p.Ile83MetfsTer30
XR_244074.2:n.399delinsGG
XM_011528010.2:c.249delinsGG XP_011526312.1:p.Ile83MetfsTer?
XR_001753685.2:n.366delinsGG
XR_001753686.2:n.366delinsGG
NM_000527.5:c.249delinsGG MANE Select NP_000518.1:p.Ile83MetfsTer?
NM_001195798.2:c.249delinsGG NP_001182727.1:p.Ile83MetfsTer?
NM_001195799.2:c.190+2377delinsGG NP_001182728.1:n.190+2377delinsGG
NM_001195800.2:c.249delinsGG NP_001182729.1:p.Ile83MetfsTer?
NM_001195803.2:c.249delinsGG NP_001182732.1:p.Ile83MetfsTer30