Canonical Allele Identifier: CA2322773762
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116997_11116998delinsAG , CM000681.2:g.11116997_11116998delinsAG GRCh38
NC_000019.9:g.11227673_11227674delinsAG , CM000681.1:g.11227673_11227674delinsAG GRCh37
NC_000019.8:g.11088673_11088674delinsAG NCBI36
NG_009060.1:g.32617_32618delinsAG , LRG_274:g.32617_32618delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2102_2103delinsAG ENSP00000252444.6:p.Glu701=
ENST00000559340.2:c.1705+785_1705+786delinsAG ENSP00000453696.2:n.1705+785_1705+786delinsAG
ENST00000560467.2:c.1724_1725delinsAG ENSP00000453513.2:p.Glu575=
ENST00000558518.6:c.1844_1845delinsAG MANE Select ENSP00000454071.1:p.Glu615=
ENST00000252444.9:c.2098_2099delinsAG
ENST00000455727.6:c.1340_1341delinsAG ENSP00000397829.2:p.Glu447=
ENST00000535915.5:c.1721_1722delinsAG ENSP00000440520.1:p.Glu574=
ENST00000545707.5:c.1463_1464delinsAG ENSP00000437639.1:p.Glu488=
ENST00000557933.5:c.1844_1845delinsAG ENSP00000453557.1:p.Glu615=
ENST00000558013.5:c.1844_1845delinsAG ENSP00000453346.1:p.Glu615=
ENST00000558518.5:c.1844_1845delinsAG ENSP00000454071.1:p.Glu615=
ENST00000559340.1:c.426+785_426+786delinsAG
NM_000527.4:c.1844_1845delinsAG , LRG_274t1:c.1844_1845delinsAG NP_000518.1:p.Glu615=
NM_001195798.1:c.1844_1845delinsAG NP_001182727.1:p.Glu615=
NM_001195799.1:c.1721_1722delinsAG NP_001182728.1:p.Glu574=
NM_001195800.1:c.1340_1341delinsAG NP_001182729.1:p.Glu447=
NM_001195803.1:c.1463_1464delinsAG NP_001182732.1:p.Glu488=
XM_011528010.1:c.1844_1845delinsAG XP_011526312.1:p.Glu615=
XM_011528011.1:c.1463_1464delinsAG XP_011526313.1:p.Glu488=
XR_244074.2:n.1855+785_1855+786delinsAG
XM_011528010.2:c.1844_1845delinsAG XP_011526312.1:p.Glu615=
XR_001753685.2:n.1961_1962delinsAG
XR_001753686.2:n.1822+785_1822+786delinsAG
NM_000527.5:c.1844_1845delinsAG MANE Select NP_000518.1:p.Glu615=
NM_001195798.2:c.1844_1845delinsAG NP_001182727.1:p.Glu615=
NM_001195799.2:c.1721_1722delinsAG NP_001182728.1:p.Glu574=
NM_001195800.2:c.1340_1341delinsAG NP_001182729.1:p.Glu447=
NM_001195803.2:c.1463_1464delinsAG NP_001182732.1:p.Glu488=