Canonical Allele Identifier: CA2322771899
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113568_11113569delinsCT , CM000681.2:g.11113568_11113569delinsCT GRCh38
NC_000019.9:g.11224244_11224245delinsCT , CM000681.1:g.11224244_11224245delinsCT GRCh37
NC_000019.8:g.11085244_11085245delinsCT NCBI36
NG_009060.1:g.29188_29189delinsCT , LRG_274:g.29188_29189delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1650_1651delinsCT ENSP00000252444.6:p.Ser550=
ENST00000559340.2:c.1392_1393delinsCT ENSP00000453696.2:p.Ser464=
ENST00000560467.2:c.1272_1273delinsCT ENSP00000453513.2:p.Ser424=
ENST00000558518.6:c.1392_1393delinsCT MANE Select ENSP00000454071.1:p.Ser464=
ENST00000252444.9:c.1646_1647delinsCT
ENST00000455727.6:c.888_889delinsCT ENSP00000397829.2:p.Ser296=
ENST00000535915.5:c.1269_1270delinsCT ENSP00000440520.1:p.Ser423=
ENST00000545707.5:c.1011_1012delinsCT ENSP00000437639.1:p.Ser337=
ENST00000557933.5:c.1392_1393delinsCT ENSP00000453557.1:p.Ser464=
ENST00000558013.5:c.1392_1393delinsCT ENSP00000453346.1:p.Ser464=
ENST00000558518.5:c.1392_1393delinsCT ENSP00000454071.1:p.Ser464=
ENST00000559340.1:c.113_114delinsCT
ENST00000560467.1:c.872_873delinsCT
NM_000527.4:c.1392_1393delinsCT , LRG_274t1:c.1392_1393delinsCT NP_000518.1:p.Ser464=
NM_001195798.1:c.1392_1393delinsCT NP_001182727.1:p.Ser464=
NM_001195799.1:c.1269_1270delinsCT NP_001182728.1:p.Ser423=
NM_001195800.1:c.888_889delinsCT NP_001182729.1:p.Ser296=
NM_001195803.1:c.1011_1012delinsCT NP_001182732.1:p.Ser337=
XM_011528010.1:c.1392_1393delinsCT XP_011526312.1:p.Ser464=
XM_011528011.1:c.1011_1012delinsCT XP_011526313.1:p.Ser337=
XR_244074.2:n.1542_1543delinsCT
XM_011528010.2:c.1392_1393delinsCT XP_011526312.1:p.Ser464=
XR_001753685.2:n.1509_1510delinsCT
XR_001753686.2:n.1509_1510delinsCT
NM_000527.5:c.1392_1393delinsCT MANE Select NP_000518.1:p.Ser464=
NM_001195798.2:c.1392_1393delinsCT NP_001182727.1:p.Ser464=
NM_001195799.2:c.1269_1270delinsCT NP_001182728.1:p.Ser423=
NM_001195800.2:c.888_889delinsCT NP_001182729.1:p.Ser296=
NM_001195803.2:c.1011_1012delinsCT NP_001182732.1:p.Ser337=