Canonical Allele Identifier: CA2322777067
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1883647079
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11122977del , CM000681.2:g.11122977del GRCh38
NC_000019.9:g.11233653del , CM000681.1:g.11233653del GRCh37
NC_000019.8:g.11094653del NCBI36
NG_009060.1:g.38597del , LRG_274:g.38597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2399-197del ENSP00000252444.6:n.2399-197del
ENST00000559340.2:c.*210-197del ENSP00000453696.2:n.*210-197del
ENST00000560467.2:c.2021-197del ENSP00000453513.2:n.2021-197del
ENST00000558518.6:c.2141-197del MANE Select ENSP00000454071.1:n.2141-197del
ENST00000252444.9:c.2395-197del
ENST00000455727.6:c.1637-197del ENSP00000397829.2:n.1637-197del
ENST00000535915.5:c.2018-197del ENSP00000440520.1:n.2018-197del
ENST00000545707.5:c.1607-197del ENSP00000437639.1:n.1607-197del
ENST00000557933.5:c.2141-197del ENSP00000453557.1:n.2141-197del
ENST00000558013.5:c.2141-197del ENSP00000453346.1:n.2141-197del
ENST00000558518.5:c.2141-197del ENSP00000454071.1:n.2141-197del
NM_000527.4:c.2141-197del , LRG_274t1:c.2141-197del NP_000518.1:n.2141-197del
NM_001195798.1:c.2141-197del NP_001182727.1:n.2141-197del
NM_001195799.1:c.2018-197del NP_001182728.1:n.2018-197del
NM_001195800.1:c.1637-197del NP_001182729.1:n.1637-197del
NM_001195803.1:c.1607-197del NP_001182732.1:n.1607-197del
XM_011528010.1:c.2141-197del XP_011526312.1:n.2141-197del
XM_011528011.1:c.1760-197del XP_011526313.1:n.1760-197del
XR_244074.2:n.2151-197del
XM_011528010.2:c.2141-197del XP_011526312.1:n.2141-197del
XR_001753685.2:n.2475-197del
XR_001753686.2:n.2118-197del
NM_000527.5:c.2141-197del MANE Select NP_000518.1:n.2141-197del
NM_001195798.2:c.2141-197del NP_001182727.1:n.2141-197del
NM_001195799.2:c.2018-197del NP_001182728.1:n.2018-197del
NM_001195800.2:c.1637-197del NP_001182729.1:n.1637-197del
NM_001195803.2:c.1607-197del NP_001182732.1:n.1607-197del
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