Canonical Allele Identifier: CA2322771882
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113547_11113549delinsCAG , CM000681.2:g.11113547_11113549delinsCAG GRCh38
NC_000019.9:g.11224223_11224225delinsCAG , CM000681.1:g.11224223_11224225delinsCAG GRCh37
NC_000019.8:g.11085223_11085225delinsCAG NCBI36
NG_009060.1:g.29167_29169delinsCAG , LRG_274:g.29167_29169delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1629_1631delinsCAG ENSP00000252444.6:p.Asp543=
ENST00000559340.2:c.1371_1373delinsCAG ENSP00000453696.2:p.Asp457=
ENST00000560467.2:c.1251_1253delinsCAG ENSP00000453513.2:p.Asp417=
ENST00000558518.6:c.1371_1373delinsCAG MANE Select ENSP00000454071.1:p.Asp457=
ENST00000252444.9:c.1625_1627delinsCAG
ENST00000455727.6:c.867_869delinsCAG ENSP00000397829.2:p.Asp289=
ENST00000535915.5:c.1248_1250delinsCAG ENSP00000440520.1:p.Asp416=
ENST00000545707.5:c.990_992delinsCAG ENSP00000437639.1:p.Asp330=
ENST00000557933.5:c.1371_1373delinsCAG ENSP00000453557.1:p.Asp457=
ENST00000558013.5:c.1371_1373delinsCAG ENSP00000453346.1:p.Asp457=
ENST00000558518.5:c.1371_1373delinsCAG ENSP00000454071.1:p.Asp457=
ENST00000559340.1:c.92_94delinsCAG
ENST00000560467.1:c.851_853delinsCAG
NM_000527.4:c.1371_1373delinsCAG , LRG_274t1:c.1371_1373delinsCAG NP_000518.1:p.Asp457=
NM_001195798.1:c.1371_1373delinsCAG NP_001182727.1:p.Asp457=
NM_001195799.1:c.1248_1250delinsCAG NP_001182728.1:p.Asp416=
NM_001195800.1:c.867_869delinsCAG NP_001182729.1:p.Asp289=
NM_001195803.1:c.990_992delinsCAG NP_001182732.1:p.Asp330=
XM_011528010.1:c.1371_1373delinsCAG XP_011526312.1:p.Asp457=
XM_011528011.1:c.990_992delinsCAG XP_011526313.1:p.Asp330=
XR_244074.2:n.1521_1523delinsCAG
XM_011528010.2:c.1371_1373delinsCAG XP_011526312.1:p.Asp457=
XR_001753685.2:n.1488_1490delinsCAG
XR_001753686.2:n.1488_1490delinsCAG
NM_000527.5:c.1371_1373delinsCAG MANE Select NP_000518.1:p.Asp457=
NM_001195798.2:c.1371_1373delinsCAG NP_001182727.1:p.Asp457=
NM_001195799.2:c.1248_1250delinsCAG NP_001182728.1:p.Asp416=
NM_001195800.2:c.867_869delinsCAG NP_001182729.1:p.Asp289=
NM_001195803.2:c.990_992delinsCAG NP_001182732.1:p.Asp330=