Canonical Allele Identifier: CA2573155695
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1455835
ClinVar RCV Id: RCV001950850
dbSNP Id: rs2147210293

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100263_11100264insT , CM000681.2:g.11100263_11100264insT GRCh38
NC_000019.9:g.11210939_11210940insT , CM000681.1:g.11210939_11210940insT GRCh37
NC_000019.8:g.11071939_11071940insT NCBI36
NG_009060.1:g.15883_15884insT , LRG_274:g.15883_15884insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.366_367insT ENSP00000252444.6:p.Gly123TrpfsTer15
ENST00000559340.2:c.108_109insT ENSP00000453696.2:p.Gly37TrpfsTer15
ENST00000560467.2:c.108_109insT ENSP00000453513.2:p.Gly37TrpfsTer15
ENST00000558518.6:c.108_109insT MANE Select ENSP00000454071.1:p.Gly37TrpfsTer15
ENST00000252444.9:c.362_363insT
ENST00000455727.6:c.108_109insT ENSP00000397829.2:p.Gly37TrpfsTer15
ENST00000535915.5:c.108_109insT ENSP00000440520.1:p.Gly37TrpfsTer15
ENST00000545707.5:c.108_109insT ENSP00000437639.1:p.Gly37TrpfsTer15
ENST00000557933.5:c.108_109insT ENSP00000453557.1:p.Gly37TrpfsTer15
ENST00000557958.1:n.194_195insT
ENST00000558013.5:c.108_109insT ENSP00000453346.1:p.Gly37TrpfsTer15
ENST00000558518.5:c.108_109insT ENSP00000454071.1:p.Gly37TrpfsTer15
ENST00000560502.5:n.194_195insT
NM_000527.4:c.108_109insT , LRG_274t1:c.108_109insT NP_000518.1:p.Gly37TrpfsTer15
NM_001195798.1:c.108_109insT NP_001182727.1:p.Gly37TrpfsTer15
NM_001195799.1:c.108_109insT NP_001182728.1:p.Gly37TrpfsTer15
NM_001195800.1:c.108_109insT NP_001182729.1:p.Gly37TrpfsTer15
NM_001195803.1:c.108_109insT NP_001182732.1:p.Gly37TrpfsTer15
XM_011528010.1:c.108_109insT XP_011526312.1:p.Gly37TrpfsTer15
XM_011528011.1:c.108_109insT XP_011526313.1:p.Gly37TrpfsTer15
XR_244074.2:n.258_259insT
XM_011528010.2:c.108_109insT XP_011526312.1:p.Gly37TrpfsTer15
XR_001753685.2:n.225_226insT
XR_001753686.2:n.225_226insT
NM_000527.5:c.108_109insT MANE Select NP_000518.1:p.Gly37TrpfsTer15
NM_001195798.2:c.108_109insT NP_001182727.1:p.Gly37TrpfsTer15
NM_001195799.2:c.108_109insT NP_001182728.1:p.Gly37TrpfsTer15
NM_001195800.2:c.108_109insT NP_001182729.1:p.Gly37TrpfsTer15
NM_001195803.2:c.108_109insT NP_001182732.1:p.Gly37TrpfsTer15