Canonical Allele Identifier: CA16609817
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403642
ClinVar RCV Id: RCV000455154
dbSNP Id: rs1060499926

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116139_11116140del , CM000681.2:g.11116139_11116140del GRCh38
NC_000019.9:g.11226815_11226816del , CM000681.1:g.11226815_11226816del GRCh37
NC_000019.8:g.11087815_11087816del NCBI36
NG_009060.1:g.31759_31760del , LRG_274:g.31759_31760del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1890_1891del ENSP00000252444.6:p.Gly632ProfsTer12
ENST00000559340.2:c.1632_1633del ENSP00000453696.2:p.Gly546ProfsTer12
ENST00000560467.2:c.1512_1513del ENSP00000453513.2:p.Gly506ProfsTer12
ENST00000558518.6:c.1632_1633del MANE Select ENSP00000454071.1:p.Gly546ProfsTer12
ENST00000252444.9:c.1886_1887del
ENST00000455727.6:c.1128_1129del ENSP00000397829.2:p.Gly378ProfsTer12
ENST00000535915.5:c.1509_1510del ENSP00000440520.1:p.Gly505ProfsTer12
ENST00000545707.5:c.1251_1252del ENSP00000437639.1:p.Gly419ProfsTer12
ENST00000557933.5:c.1632_1633del ENSP00000453557.1:p.Gly546ProfsTer12
ENST00000558013.5:c.1632_1633del ENSP00000453346.1:p.Gly546ProfsTer12
ENST00000558518.5:c.1632_1633del ENSP00000454071.1:p.Gly546ProfsTer12
ENST00000559340.1:c.353_354del
NM_000527.4:c.1632_1633del , LRG_274t1:c.1632_1633del NP_000518.1:p.Gly546ProfsTer12
NM_001195798.1:c.1632_1633del NP_001182727.1:p.Gly546ProfsTer12
NM_001195799.1:c.1509_1510del NP_001182728.1:p.Gly505ProfsTer12
NM_001195800.1:c.1128_1129del NP_001182729.1:p.Gly378ProfsTer12
NM_001195803.1:c.1251_1252del NP_001182732.1:p.Gly419ProfsTer12
XM_011528010.1:c.1632_1633del XP_011526312.1:p.Gly546ProfsTer12
XM_011528011.1:c.1251_1252del XP_011526313.1:p.Gly419ProfsTer12
XR_244074.2:n.1782_1783del
XM_011528010.2:c.1632_1633del XP_011526312.1:p.Gly546ProfsTer12
XR_001753685.2:n.1749_1750del
XR_001753686.2:n.1749_1750del
NM_000527.5:c.1632_1633del MANE Select NP_000518.1:p.Gly546ProfsTer12
NM_001195798.2:c.1632_1633del NP_001182727.1:p.Gly546ProfsTer12
NM_001195799.2:c.1509_1510del NP_001182728.1:p.Gly505ProfsTer12
NM_001195800.2:c.1128_1129del NP_001182729.1:p.Gly378ProfsTer12
NM_001195803.2:c.1251_1252del NP_001182732.1:p.Gly419ProfsTer12