Canonical Allele Identifier: CA404096654
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11128019del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128019del , CM000681.2:g.11128019del GRCh38
NC_000019.9:g.11238695del , CM000681.1:g.11238695del GRCh37
NC_000019.8:g.11099695del NCBI36
NG_009060.1:g.43639del , LRG_274:g.43639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2581del ENSP00000252444.6:p.Val861LeufsTer13
ENST00000559340.2:c.*392del ENSP00000453696.2:n.*392del
ENST00000560467.2:c.2203del ENSP00000453513.2:p.Val735LeufsTer13
ENST00000558518.6:c.2323del MANE Select ENSP00000454071.1:p.Val775LeufsTer13
ENST00000252444.9:c.2577del
ENST00000455727.6:c.1819del ENSP00000397829.2:p.Val607LeufsTer13
ENST00000535915.5:c.2200del ENSP00000440520.1:p.Val734LeufsTer13
ENST00000545707.5:c.1789del ENSP00000437639.1:p.Val597LeufsTer13
ENST00000557933.5:c.2323del ENSP00000453557.1:p.Val775LeufsTer13
ENST00000558013.5:c.2323del ENSP00000453346.1:p.Val775LeufsTer13
ENST00000558518.5:c.2323del ENSP00000454071.1:p.Val775LeufsTer13
ENST00000560628.1:n.108+365del
NM_000527.4:c.2323del , LRG_274t1:c.2323del NP_000518.1:p.Val775LeufsTer13
NM_001195798.1:c.2323del NP_001182727.1:p.Val775LeufsTer13
NM_001195799.1:c.2200del NP_001182728.1:p.Val734LeufsTer13
NM_001195800.1:c.1819del NP_001182729.1:p.Val607LeufsTer13
NM_001195803.1:c.1789del NP_001182732.1:p.Val597LeufsTer13
XM_011528010.1:c.2312-1494del XP_011526312.1:n.2312-1494del
XM_011528011.1:c.1942del XP_011526313.1:p.Val648LeufsTer13
XR_244074.2:n.2333del
XM_011528010.2:c.2312-1494del XP_011526312.1:n.2312-1494del
XR_001753685.2:n.2657del
XR_001753686.2:n.2300del
NM_000527.5:c.2323del MANE Select NP_000518.1:p.Val775LeufsTer13
NM_001195798.2:c.2323del NP_001182727.1:p.Val775LeufsTer13
NM_001195799.2:c.2200del NP_001182728.1:p.Val734LeufsTer13
NM_001195800.2:c.1819del NP_001182729.1:p.Val607LeufsTer13
NM_001195803.2:c.1789del NP_001182732.1:p.Val597LeufsTer13
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