Canonical Allele Identifier: CA2695228156
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111636_11111637insC , CM000681.2:g.11111636_11111637insC GRCh38
NC_000019.9:g.11222312_11222313insC , CM000681.1:g.11222312_11222313insC GRCh37
NC_000019.8:g.11083312_11083313insC NCBI36
NG_009060.1:g.27256_27257insC , LRG_274:g.27256_27257insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1441_1442insC ENSP00000252444.6:p.Val481AlafsTer?
ENST00000559340.2:c.1183_1184insC ENSP00000453696.2:p.Val395AlafsTer?
ENST00000560467.2:c.1063_1064insC ENSP00000453513.2:p.Val355AlafsTer?
ENST00000558518.6:c.1183_1184insC MANE Select ENSP00000454071.1:p.Val395AlafsTer?
ENST00000252444.9:c.1437_1438insC
ENST00000455727.6:c.679_680insC ENSP00000397829.2:p.Val227AlafsTer?
ENST00000535915.5:c.1060_1061insC ENSP00000440520.1:p.Val354AlafsTer?
ENST00000545707.5:c.802_803insC ENSP00000437639.1:p.Val268AlafsTer?
ENST00000557933.5:c.1183_1184insC ENSP00000453557.1:p.Val395AlafsTer?
ENST00000558013.5:c.1183_1184insC ENSP00000453346.1:p.Val395AlafsTer?
ENST00000558518.5:c.1183_1184insC ENSP00000454071.1:p.Val395AlafsTer?
ENST00000560173.1:n.182_183insC
ENST00000560467.1:c.663_664insC
NM_000527.4:c.1183_1184insC , LRG_274t1:c.1183_1184insC NP_000518.1:p.Val395AlafsTer?
NM_001195798.1:c.1183_1184insC NP_001182727.1:p.Val395AlafsTer?
NM_001195799.1:c.1060_1061insC NP_001182728.1:p.Val354AlafsTer?
NM_001195800.1:c.679_680insC NP_001182729.1:p.Val227AlafsTer?
NM_001195803.1:c.802_803insC NP_001182732.1:p.Val268AlafsTer?
XM_011528010.1:c.1183_1184insC XP_011526312.1:p.Val395AlafsTer?
XM_011528011.1:c.802_803insC XP_011526313.1:p.Val268AlafsTer?
XR_244074.2:n.1333_1334insC
XM_011528010.2:c.1183_1184insC XP_011526312.1:p.Val395AlafsTer?
XR_001753685.2:n.1300_1301insC
XR_001753686.2:n.1300_1301insC
NM_000527.5:c.1183_1184insC MANE Select NP_000518.1:p.Val395AlafsTer?
NM_001195798.2:c.1183_1184insC NP_001182727.1:p.Val395AlafsTer?
NM_001195799.2:c.1060_1061insC NP_001182728.1:p.Val354AlafsTer?
NM_001195800.2:c.679_680insC NP_001182729.1:p.Val227AlafsTer?
NM_001195803.2:c.802_803insC NP_001182732.1:p.Val268AlafsTer?