Canonical Allele Identifier: CA2580096432
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1769469
ClinVar RCV Id: RCV002380907
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113395_11113398delinsTGGC , CM000681.2:g.11113395_11113398delinsTGGC GRCh38
NC_000019.9:g.11224071_11224074delinsTGGC , CM000681.1:g.11224071_11224074delinsTGGC GRCh37
NC_000019.8:g.11085071_11085074delinsTGGC NCBI36
NG_009060.1:g.29015_29018delinsTGGC , LRG_274:g.29015_29018delinsTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1562_1565delinsTGGC ENSP00000252444.6:p.Glu521_Val522delinsValAla
ENST00000559340.2:c.1304_1307delinsTGGC ENSP00000453696.2:p.Glu435_Val436delinsValAla
ENST00000560467.2:c.1184_1187delinsTGGC ENSP00000453513.2:p.Glu395_Val396delinsValAla
ENST00000558518.6:c.1304_1307delinsTGGC MANE Select ENSP00000454071.1:p.Glu435_Val436delinsValAla
ENST00000252444.9:c.1558_1561delinsTGGC
ENST00000455727.6:c.800_803delinsTGGC ENSP00000397829.2:p.Glu267_Val268delinsValAla
ENST00000535915.5:c.1181_1184delinsTGGC ENSP00000440520.1:p.Glu394_Val395delinsValAla
ENST00000545707.5:c.923_926delinsTGGC ENSP00000437639.1:p.Glu308_Val309delinsValAla
ENST00000557933.5:c.1304_1307delinsTGGC ENSP00000453557.1:p.Glu435_Val436delinsValAla
ENST00000558013.5:c.1304_1307delinsTGGC ENSP00000453346.1:p.Glu435_Val436delinsValAla
ENST00000558518.5:c.1304_1307delinsTGGC ENSP00000454071.1:p.Glu435_Val436delinsValAla
ENST00000559340.1:c.25_28delinsTGGC
ENST00000560173.1:n.303_306delinsTGGC
ENST00000560467.1:c.784_787delinsTGGC
NM_000527.4:c.1304_1307delinsTGGC , LRG_274t1:c.1304_1307delinsTGGC NP_000518.1:p.Glu435_Val436delinsValAla
NM_001195798.1:c.1304_1307delinsTGGC NP_001182727.1:p.Glu435_Val436delinsValAla
NM_001195799.1:c.1181_1184delinsTGGC NP_001182728.1:p.Glu394_Val395delinsValAla
NM_001195800.1:c.800_803delinsTGGC NP_001182729.1:p.Glu267_Val268delinsValAla
NM_001195803.1:c.923_926delinsTGGC NP_001182732.1:p.Glu308_Val309delinsValAla
XM_011528010.1:c.1304_1307delinsTGGC XP_011526312.1:p.Glu435_Val436delinsValAla
XM_011528011.1:c.923_926delinsTGGC XP_011526313.1:p.Glu308_Val309delinsValAla
XR_244074.2:n.1454_1457delinsTGGC
XM_011528010.2:c.1304_1307delinsTGGC XP_011526312.1:p.Glu435_Val436delinsValAla
XR_001753685.2:n.1421_1424delinsTGGC
XR_001753686.2:n.1421_1424delinsTGGC
NM_000527.5:c.1304_1307delinsTGGC MANE Select NP_000518.1:p.Glu435_Val436delinsValAla
NM_001195798.2:c.1304_1307delinsTGGC NP_001182727.1:p.Glu435_Val436delinsValAla
NM_001195799.2:c.1181_1184delinsTGGC NP_001182728.1:p.Glu394_Val395delinsValAla
NM_001195800.2:c.800_803delinsTGGC NP_001182729.1:p.Glu267_Val268delinsValAla
NM_001195803.2:c.923_926delinsTGGC NP_001182732.1:p.Glu308_Val309delinsValAla
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