Canonical Allele Identifier: CA2695228151
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111567_11111568insC , CM000681.2:g.11111567_11111568insC GRCh38
NC_000019.9:g.11222243_11222244insC , CM000681.1:g.11222243_11222244insC GRCh37
NC_000019.8:g.11083243_11083244insC NCBI36
NG_009060.1:g.27187_27188insC , LRG_274:g.27187_27188insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1372_1373insC ENSP00000252444.6:p.Glu458AlafsTer9
ENST00000559340.2:c.1114_1115insC ENSP00000453696.2:p.Glu372AlafsTer9
ENST00000560467.2:c.994_995insC ENSP00000453513.2:p.Glu332AlafsTer9
ENST00000558518.6:c.1114_1115insC MANE Select ENSP00000454071.1:p.Glu372AlafsTer9
ENST00000252444.9:c.1368_1369insC
ENST00000455727.6:c.610_611insC ENSP00000397829.2:p.Glu204AlafsTer9
ENST00000535915.5:c.991_992insC ENSP00000440520.1:p.Glu331AlafsTer9
ENST00000545707.5:c.733_734insC ENSP00000437639.1:p.Glu245AlafsTer9
ENST00000557933.5:c.1114_1115insC ENSP00000453557.1:p.Glu372AlafsTer9
ENST00000558013.5:c.1114_1115insC ENSP00000453346.1:p.Glu372AlafsTer9
ENST00000558518.5:c.1114_1115insC ENSP00000454071.1:p.Glu372AlafsTer9
ENST00000560173.1:n.113_114insC
ENST00000560467.1:c.594_595insC
NM_000527.4:c.1114_1115insC , LRG_274t1:c.1114_1115insC NP_000518.1:p.Glu372AlafsTer9
NM_001195798.1:c.1114_1115insC NP_001182727.1:p.Glu372AlafsTer9
NM_001195799.1:c.991_992insC NP_001182728.1:p.Glu331AlafsTer9
NM_001195800.1:c.610_611insC NP_001182729.1:p.Glu204AlafsTer9
NM_001195803.1:c.733_734insC NP_001182732.1:p.Glu245AlafsTer9
XM_011528010.1:c.1114_1115insC XP_011526312.1:p.Glu372AlafsTer9
XM_011528011.1:c.733_734insC XP_011526313.1:p.Glu245AlafsTer9
XR_244074.2:n.1264_1265insC
XM_011528010.2:c.1114_1115insC XP_011526312.1:p.Glu372AlafsTer9
XR_001753685.2:n.1231_1232insC
XR_001753686.2:n.1231_1232insC
NM_000527.5:c.1114_1115insC MANE Select NP_000518.1:p.Glu372AlafsTer9
NM_001195798.2:c.1114_1115insC NP_001182727.1:p.Glu372AlafsTer9
NM_001195799.2:c.991_992insC NP_001182728.1:p.Glu331AlafsTer9
NM_001195800.2:c.610_611insC NP_001182729.1:p.Glu204AlafsTer9
NM_001195803.2:c.733_734insC NP_001182732.1:p.Glu245AlafsTer9