Canonical Allele Identifier: CA16609812
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1060499922

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111637_11111638del , CM000681.2:g.11111637_11111638del GRCh38
NC_000019.9:g.11222313_11222314del , CM000681.1:g.11222313_11222314del GRCh37
NC_000019.8:g.11083313_11083314del NCBI36
NG_009060.1:g.27257_27258del , LRG_274:g.27257_27258del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1442_1443del ENSP00000252444.6:p.Val481GlyfsTer?
ENST00000559340.2:c.1184_1185del ENSP00000453696.2:p.Val395GlyfsTer?
ENST00000560467.2:c.1064_1065del ENSP00000453513.2:p.Val355GlyfsTer?
ENST00000558518.6:c.1184_1185del MANE Select ENSP00000454071.1:p.Val395GlyfsTer?
ENST00000252444.9:c.1438_1439del
ENST00000455727.6:c.680_681del ENSP00000397829.2:p.Val227GlyfsTer?
ENST00000535915.5:c.1061_1062del ENSP00000440520.1:p.Val354GlyfsTer?
ENST00000545707.5:c.803_804del ENSP00000437639.1:p.Val268GlyfsTer?
ENST00000557933.5:c.1184_1185del ENSP00000453557.1:p.Val395GlyfsTer?
ENST00000558013.5:c.1184_1185del ENSP00000453346.1:p.Val395GlyfsTer?
ENST00000558518.5:c.1184_1185del ENSP00000454071.1:p.Val395GlyfsTer?
ENST00000560173.1:n.183_184del
ENST00000560467.1:c.664_665del
NM_000527.4:c.1184_1185del , LRG_274t1:c.1184_1185del NP_000518.1:p.Val395GlyfsTer?
NM_001195798.1:c.1184_1185del NP_001182727.1:p.Val395GlyfsTer?
NM_001195799.1:c.1061_1062del NP_001182728.1:p.Val354GlyfsTer?
NM_001195800.1:c.680_681del NP_001182729.1:p.Val227GlyfsTer?
NM_001195803.1:c.803_804del NP_001182732.1:p.Val268GlyfsTer?
XM_011528010.1:c.1184_1185del XP_011526312.1:p.Val395GlyfsTer?
XM_011528011.1:c.803_804del XP_011526313.1:p.Val268GlyfsTer?
XR_244074.2:n.1334_1335del
XM_011528010.2:c.1184_1185del XP_011526312.1:p.Val395GlyfsTer?
XR_001753685.2:n.1301_1302del
XR_001753686.2:n.1301_1302del
NM_000527.5:c.1184_1185del MANE Select NP_000518.1:p.Val395GlyfsTer?
NM_001195798.2:c.1184_1185del NP_001182727.1:p.Val395GlyfsTer?
NM_001195799.2:c.1061_1062del NP_001182728.1:p.Val354GlyfsTer?
NM_001195800.2:c.680_681del NP_001182729.1:p.Val227GlyfsTer?
NM_001195803.2:c.803_804del NP_001182732.1:p.Val268GlyfsTer?