Canonical Allele Identifier: CA2322770295
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110751_11110752delinsTG , CM000681.2:g.11110751_11110752delinsTG GRCh38
NC_000019.9:g.11221427_11221428delinsTG , CM000681.1:g.11221427_11221428delinsTG GRCh37
NC_000019.8:g.11082427_11082428delinsTG NCBI36
NG_009060.1:g.26371_26372delinsTG , LRG_274:g.26371_26372delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1298_1299delinsTG ENSP00000252444.6:p.Val433=
ENST00000559340.2:c.1040_1041delinsTG ENSP00000453696.2:p.Val347=
ENST00000560467.2:c.941-763_941-762delinsTG ENSP00000453513.2:n.941-763_941-762delinsTG
ENST00000558518.6:c.1040_1041delinsTG MANE Select ENSP00000454071.1:p.Val347=
ENST00000252444.9:c.1294_1295delinsTG
ENST00000455727.6:c.536_537delinsTG ENSP00000397829.2:p.Val179=
ENST00000535915.5:c.917_918delinsTG ENSP00000440520.1:p.Val306=
ENST00000545707.5:c.659_660delinsTG ENSP00000437639.1:p.Val220=
ENST00000557933.5:c.1040_1041delinsTG ENSP00000453557.1:p.Val347=
ENST00000558013.5:c.1040_1041delinsTG ENSP00000453346.1:p.Val347=
ENST00000558518.5:c.1040_1041delinsTG ENSP00000454071.1:p.Val347=
ENST00000560173.1:n.39_40delinsTG
ENST00000560467.1:c.541-763_541-762delinsTG
NM_000527.4:c.1040_1041delinsTG , LRG_274t1:c.1040_1041delinsTG NP_000518.1:p.Val347=
NM_001195798.1:c.1040_1041delinsTG NP_001182727.1:p.Val347=
NM_001195799.1:c.917_918delinsTG NP_001182728.1:p.Val306=
NM_001195800.1:c.536_537delinsTG NP_001182729.1:p.Val179=
NM_001195803.1:c.659_660delinsTG NP_001182732.1:p.Val220=
XM_011528010.1:c.1040_1041delinsTG XP_011526312.1:p.Val347=
XM_011528011.1:c.659_660delinsTG XP_011526313.1:p.Val220=
XR_244074.2:n.1190_1191delinsTG
XM_011528010.2:c.1040_1041delinsTG XP_011526312.1:p.Val347=
XR_001753685.2:n.1157_1158delinsTG
XR_001753686.2:n.1157_1158delinsTG
NM_000527.5:c.1040_1041delinsTG MANE Select NP_000518.1:p.Val347=
NM_001195798.2:c.1040_1041delinsTG NP_001182727.1:p.Val347=
NM_001195799.2:c.917_918delinsTG NP_001182728.1:p.Val306=
NM_001195800.2:c.536_537delinsTG NP_001182729.1:p.Val179=
NM_001195803.2:c.659_660delinsTG NP_001182732.1:p.Val220=