Canonical Allele Identifier: CA2322771947
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113622_11113623delinsCT , CM000681.2:g.11113622_11113623delinsCT GRCh38
NC_000019.9:g.11224298_11224299delinsCT , CM000681.1:g.11224298_11224299delinsCT GRCh37
NC_000019.8:g.11085298_11085299delinsCT NCBI36
NG_009060.1:g.29242_29243delinsCT , LRG_274:g.29242_29243delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1704_1705delinsCT ENSP00000252444.6:p.Asp568=
ENST00000559340.2:c.1446_1447delinsCT ENSP00000453696.2:p.Asp482=
ENST00000560467.2:c.1326_1327delinsCT ENSP00000453513.2:p.Asp442=
ENST00000558518.6:c.1446_1447delinsCT MANE Select ENSP00000454071.1:p.Asp482=
ENST00000252444.9:c.1700_1701delinsCT
ENST00000455727.6:c.942_943delinsCT ENSP00000397829.2:p.Asp314=
ENST00000535915.5:c.1323_1324delinsCT ENSP00000440520.1:p.Asp441=
ENST00000545707.5:c.1065_1066delinsCT ENSP00000437639.1:p.Asp355=
ENST00000557933.5:c.1446_1447delinsCT ENSP00000453557.1:p.Asp482=
ENST00000558013.5:c.1446_1447delinsCT ENSP00000453346.1:p.Asp482=
ENST00000558518.5:c.1446_1447delinsCT ENSP00000454071.1:p.Asp482=
ENST00000559340.1:c.167_168delinsCT
ENST00000560467.1:c.926_927delinsCT
NM_000527.4:c.1446_1447delinsCT , LRG_274t1:c.1446_1447delinsCT NP_000518.1:p.Asp482=
NM_001195798.1:c.1446_1447delinsCT NP_001182727.1:p.Asp482=
NM_001195799.1:c.1323_1324delinsCT NP_001182728.1:p.Asp441=
NM_001195800.1:c.942_943delinsCT NP_001182729.1:p.Asp314=
NM_001195803.1:c.1065_1066delinsCT NP_001182732.1:p.Asp355=
XM_011528010.1:c.1446_1447delinsCT XP_011526312.1:p.Asp482=
XM_011528011.1:c.1065_1066delinsCT XP_011526313.1:p.Asp355=
XR_244074.2:n.1596_1597delinsCT
XM_011528010.2:c.1446_1447delinsCT XP_011526312.1:p.Asp482=
XR_001753685.2:n.1563_1564delinsCT
XR_001753686.2:n.1563_1564delinsCT
NM_000527.5:c.1446_1447delinsCT MANE Select NP_000518.1:p.Asp482=
NM_001195798.2:c.1446_1447delinsCT NP_001182727.1:p.Asp482=
NM_001195799.2:c.1323_1324delinsCT NP_001182728.1:p.Asp441=
NM_001195800.2:c.942_943delinsCT NP_001182729.1:p.Asp314=
NM_001195803.2:c.1065_1066delinsCT NP_001182732.1:p.Asp355=