Canonical Allele Identifier: CA2582474404
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11111521-T-TGTCAGGATCCCGAC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111522_11111523insTCAGGATCCCGACG , CM000681.2:g.11111522_11111523insTCAGGATCCCGACG GRCh38
NC_000019.9:g.11222198_11222199insTCAGGATCCCGACG , CM000681.1:g.11222198_11222199insTCAGGATCCCGACG GRCh37
NC_000019.8:g.11083198_11083199insTCAGGATCCCGACG NCBI36
NG_009060.1:g.27142_27143insTCAGGATCCCGACG , LRG_274:g.27142_27143insTCAGGATCCCGACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1327_1328insTCAGGATCCCGACG ENSP00000252444.6:p.Glu443ValfsTer18
ENST00000559340.2:c.1069_1070insTCAGGATCCCGACG ENSP00000453696.2:p.Glu357ValfsTer18
ENST00000560467.2:c.949_950insTCAGGATCCCGACG ENSP00000453513.2:p.Glu317ValfsTer18
ENST00000558518.6:c.1069_1070insTCAGGATCCCGACG MANE Select ENSP00000454071.1:p.Glu357ValfsTer18
ENST00000252444.9:c.1323_1324insTCAGGATCCCGACG
ENST00000455727.6:c.565_566insTCAGGATCCCGACG ENSP00000397829.2:p.Glu189ValfsTer18
ENST00000535915.5:c.946_947insTCAGGATCCCGACG ENSP00000440520.1:p.Glu316ValfsTer18
ENST00000545707.5:c.688_689insTCAGGATCCCGACG ENSP00000437639.1:p.Glu230ValfsTer18
ENST00000557933.5:c.1069_1070insTCAGGATCCCGACG ENSP00000453557.1:p.Glu357ValfsTer18
ENST00000558013.5:c.1069_1070insTCAGGATCCCGACG ENSP00000453346.1:p.Glu357ValfsTer18
ENST00000558518.5:c.1069_1070insTCAGGATCCCGACG ENSP00000454071.1:p.Glu357ValfsTer18
ENST00000560173.1:n.68_69insTCAGGATCCCGACG
ENST00000560467.1:c.549_550insTCAGGATCCCGACG
NM_000527.4:c.1069_1070insTCAGGATCCCGACG , LRG_274t1:c.1069_1070insTCAGGATCCCGACG NP_000518.1:p.Glu357ValfsTer18
NM_001195798.1:c.1069_1070insTCAGGATCCCGACG NP_001182727.1:p.Glu357ValfsTer18
NM_001195799.1:c.946_947insTCAGGATCCCGACG NP_001182728.1:p.Glu316ValfsTer18
NM_001195800.1:c.565_566insTCAGGATCCCGACG NP_001182729.1:p.Glu189ValfsTer18
NM_001195803.1:c.688_689insTCAGGATCCCGACG NP_001182732.1:p.Glu230ValfsTer18
XM_011528010.1:c.1069_1070insTCAGGATCCCGACG XP_011526312.1:p.Glu357ValfsTer18
XM_011528011.1:c.688_689insTCAGGATCCCGACG XP_011526313.1:p.Glu230ValfsTer18
XR_244074.2:n.1219_1220insTCAGGATCCCGACG
XM_011528010.2:c.1069_1070insTCAGGATCCCGACG XP_011526312.1:p.Glu357ValfsTer18
XR_001753685.2:n.1186_1187insTCAGGATCCCGACG
XR_001753686.2:n.1186_1187insTCAGGATCCCGACG
NM_000527.5:c.1069_1070insTCAGGATCCCGACG MANE Select NP_000518.1:p.Glu357ValfsTer18
NM_001195798.2:c.1069_1070insTCAGGATCCCGACG NP_001182727.1:p.Glu357ValfsTer18
NM_001195799.2:c.946_947insTCAGGATCCCGACG NP_001182728.1:p.Glu316ValfsTer18
NM_001195800.2:c.565_566insTCAGGATCCCGACG NP_001182729.1:p.Glu189ValfsTer18
NM_001195803.2:c.688_689insTCAGGATCCCGACG NP_001182732.1:p.Glu230ValfsTer18
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