Canonical Allele Identifier: CA645373241
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430784
ClinVar RCV Id: RCV000495886
dbSNP Id: rs1131692214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116889_11116890delinsT , CM000681.2:g.11116889_11116890delinsT GRCh38
NC_000019.9:g.11227565_11227566delinsT , CM000681.1:g.11227565_11227566delinsT GRCh37
NC_000019.8:g.11088565_11088566delinsT NCBI36
NG_009060.1:g.32509_32510delinsT , LRG_274:g.32509_32510delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1994_1995delinsT ENSP00000252444.6:p.Asp665ValfsTer?
ENST00000559340.2:c.1705+677_1705+678delinsT ENSP00000453696.2:n.1705+677_1705+678deli...
ENST00000560467.2:c.1616_1617delinsT ENSP00000453513.2:p.Asp539ValfsTer?
ENST00000558518.6:c.1736_1737delinsT MANE Select ENSP00000454071.1:p.Asp579ValfsTer?
ENST00000252444.9:c.1990_1991delinsT
ENST00000455727.6:c.1232_1233delinsT ENSP00000397829.2:p.Asp411ValfsTer?
ENST00000535915.5:c.1613_1614delinsT ENSP00000440520.1:p.Asp538ValfsTer?
ENST00000545707.5:c.1355_1356delinsT ENSP00000437639.1:p.Asp452ValfsTer?
ENST00000557933.5:c.1736_1737delinsT ENSP00000453557.1:p.Asp579ValfsTer?
ENST00000558013.5:c.1736_1737delinsT ENSP00000453346.1:p.Asp579ValfsTer?
ENST00000558518.5:c.1736_1737delinsT ENSP00000454071.1:p.Asp579ValfsTer?
ENST00000559340.1:c.426+677_426+678delinsT
NM_000527.4:c.1736_1737delinsT , LRG_274t1:c.1736_1737delinsT NP_000518.1:p.Asp579ValfsTer?
NM_001195798.1:c.1736_1737delinsT NP_001182727.1:p.Asp579ValfsTer?
NM_001195799.1:c.1613_1614delinsT NP_001182728.1:p.Asp538ValfsTer?
NM_001195800.1:c.1232_1233delinsT NP_001182729.1:p.Asp411ValfsTer?
NM_001195803.1:c.1355_1356delinsT NP_001182732.1:p.Asp452ValfsTer?
XM_011528010.1:c.1736_1737delinsT XP_011526312.1:p.Asp579ValfsTer?
XM_011528011.1:c.1355_1356delinsT XP_011526313.1:p.Asp452ValfsTer?
XR_244074.2:n.1855+677_1855+678delinsT
XM_011528010.2:c.1736_1737delinsT XP_011526312.1:p.Asp579ValfsTer?
XR_001753685.2:n.1853_1854delinsT
XR_001753686.2:n.1822+677_1822+678delinsT
NM_000527.5:c.1736_1737delinsT MANE Select NP_000518.1:p.Asp579ValfsTer?
NM_001195798.2:c.1736_1737delinsT NP_001182727.1:p.Asp579ValfsTer?
NM_001195799.2:c.1613_1614delinsT NP_001182728.1:p.Asp538ValfsTer?
NM_001195800.2:c.1232_1233delinsT NP_001182729.1:p.Asp411ValfsTer?
NM_001195803.2:c.1355_1356delinsT NP_001182732.1:p.Asp452ValfsTer?
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