Canonical Allele Identifier: CA2582474023
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107585_11107586insCCGACGCGTTTTCTTAATGAATCCATTTGCAT , CM000681.2:g.11107585_11107586insCCGACGCGTTTTCTTAATGAATCCATTTGCAT GRCh38
NC_000019.9:g.11218261_11218262insCCGACGCGTTTTCTTAATGAATCCATTTGCAT , CM000681.1:g.11218261_11218262insCCGACGCGTTTTCTTAATGAATCCATTTGCAT GRCh37
NC_000019.8:g.11079261_11079262insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NCBI36
NG_009060.1:g.23205_23206insCCGACGCGTTTTCTTAATGAATCCATTTGCAT , LRG_274:g.23205_23206insCCGACGCGTTTTCTTAATGAATCCATTTGCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+71_1198+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000252444.6:n.1198+71_1198+72insCCGACGCGTTTTCTTAATGAATC...
ENST00000559340.2:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000453696.2:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000560467.2:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000453513.2:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000558518.6:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT MANE Select ENSP00000454071.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000252444.9:c.1194+71_1194+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT
ENST00000455727.6:c.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000397829.2:n.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000535915.5:c.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000440520.1:n.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000545707.5:c.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000437639.1:n.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000557933.5:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000453557.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000558013.5:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000453346.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000558518.5:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT ENSP00000454071.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCA...
ENST00000560467.1:c.540+71_540+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT
NM_000527.4:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT , LRG_274t1:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_000518.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCA...
NM_001195798.1:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182727.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195799.1:c.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182728.1:n.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195800.1:c.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182729.1:n.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195803.1:c.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182732.1:n.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTT...
XM_011528010.1:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT XP_011526312.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTT...
XM_011528011.1:c.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT XP_011526313.1:n.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTT...
XR_244074.2:n.1090+71_1090+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT
XM_011528010.2:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT XP_011526312.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTT...
XR_001753685.2:n.1057+71_1057+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT
XR_001753686.2:n.1057+71_1057+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT
NM_000527.5:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT MANE Select NP_000518.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCA...
NM_001195798.2:c.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182727.1:n.940+71_940+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195799.2:c.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182728.1:n.817+71_817+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195800.2:c.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182729.1:n.436+71_436+72insCCGACGCGTTTTCTTAATGAATCCATTT...
NM_001195803.2:c.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTTGCAT NP_001182732.1:n.559+71_559+72insCCGACGCGTTTTCTTAATGAATCCATTT...