Canonical Allele Identifier: CA2322770794
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111637_11111638delinsTG , CM000681.2:g.11111637_11111638delinsTG GRCh38
NC_000019.9:g.11222313_11222314delinsTG , CM000681.1:g.11222313_11222314delinsTG GRCh37
NC_000019.8:g.11083313_11083314delinsTG NCBI36
NG_009060.1:g.27257_27258delinsTG , LRG_274:g.27257_27258delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1442_1443delinsTG ENSP00000252444.6:p.Val481=
ENST00000559340.2:c.1184_1185delinsTG ENSP00000453696.2:p.Val395=
ENST00000560467.2:c.1064_1065delinsTG ENSP00000453513.2:p.Val355=
ENST00000558518.6:c.1184_1185delinsTG MANE Select ENSP00000454071.1:p.Val395=
ENST00000252444.9:c.1438_1439delinsTG
ENST00000455727.6:c.680_681delinsTG ENSP00000397829.2:p.Val227=
ENST00000535915.5:c.1061_1062delinsTG ENSP00000440520.1:p.Val354=
ENST00000545707.5:c.803_804delinsTG ENSP00000437639.1:p.Val268=
ENST00000557933.5:c.1184_1185delinsTG ENSP00000453557.1:p.Val395=
ENST00000558013.5:c.1184_1185delinsTG ENSP00000453346.1:p.Val395=
ENST00000558518.5:c.1184_1185delinsTG ENSP00000454071.1:p.Val395=
ENST00000560173.1:n.183_184delinsTG
ENST00000560467.1:c.664_665delinsTG
NM_000527.4:c.1184_1185delinsTG , LRG_274t1:c.1184_1185delinsTG NP_000518.1:p.Val395=
NM_001195798.1:c.1184_1185delinsTG NP_001182727.1:p.Val395=
NM_001195799.1:c.1061_1062delinsTG NP_001182728.1:p.Val354=
NM_001195800.1:c.680_681delinsTG NP_001182729.1:p.Val227=
NM_001195803.1:c.803_804delinsTG NP_001182732.1:p.Val268=
XM_011528010.1:c.1184_1185delinsTG XP_011526312.1:p.Val395=
XM_011528011.1:c.803_804delinsTG XP_011526313.1:p.Val268=
XR_244074.2:n.1334_1335delinsTG
XM_011528010.2:c.1184_1185delinsTG XP_011526312.1:p.Val395=
XR_001753685.2:n.1301_1302delinsTG
XR_001753686.2:n.1301_1302delinsTG
NM_000527.5:c.1184_1185delinsTG MANE Select NP_000518.1:p.Val395=
NM_001195798.2:c.1184_1185delinsTG NP_001182727.1:p.Val395=
NM_001195799.2:c.1061_1062delinsTG NP_001182728.1:p.Val354=
NM_001195800.2:c.680_681delinsTG NP_001182729.1:p.Val227=
NM_001195803.2:c.803_804delinsTG NP_001182732.1:p.Val268=