Canonical Allele Identifier: CA2813590281
Gene: LDLR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129634_11129635insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG , CM000681.2:g.11129634_11129635insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG GRCh38
NC_000019.9:g.11240310_11240311insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG , CM000681.1:g.11240310_11240311insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG GRCh37
NC_000019.8:g.11101310_11101311insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NCBI36
NG_009060.1:g.45254_45255insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG , LRG_274:g.45254_45255insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2769_2770insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000252444.6:p.Ile924GlyfsTer52
ENST00000559340.2:c.*580_*581insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000453696.2:n.*580_*581insGGGACTATCGCCGATGCTATCTATCGAGG...
ENST00000560467.2:c.2391_2392insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000453513.2:p.Ile798GlyfsTer52
ENST00000558518.6:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG MANE Select ENSP00000454071.1:p.Ile838GlyfsTer52
ENST00000252444.9:c.2765_2766insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG
ENST00000455727.6:c.2007_2008insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000397829.2:p.Ile670GlyfsTer52
ENST00000535915.5:c.2388_2389insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000440520.1:p.Ile797GlyfsTer52
ENST00000545707.5:c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000437639.1:p.Ile660GlyfsTer52
ENST00000557933.5:c.2573_2574insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000453557.1:p.Phe859GlyfsTer55
ENST00000558013.5:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000453346.1:p.Ile838GlyfsTer50
ENST00000558518.5:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG ENSP00000454071.1:p.Ile838GlyfsTer52
ENST00000560628.1:n.108+1980_108+1981insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG
NM_000527.4:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG , LRG_274t1:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_000518.1:p.Ile838GlyfsTer52
NM_001195798.1:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182727.1:p.Ile838GlyfsTer50
NM_001195799.1:c.2388_2389insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182728.1:p.Ile797GlyfsTer52
NM_001195800.1:c.2007_2008insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182729.1:p.Ile670GlyfsTer52
NM_001195803.1:c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182732.1:p.Ile660GlyfsTer52
XM_011528010.1:c.2433_2434insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG XP_011526312.1:p.Ile812GlyfsTer52
XM_011528011.1:c.2130_2131insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG XP_011526313.1:p.Ile711GlyfsTer52
XM_011528010.2:c.2433_2434insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG XP_011526312.1:p.Ile812GlyfsTer52
XR_001753685.2:n.2845_2846insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG
XR_001753686.2:n.2488_2489insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG
NM_000527.5:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG MANE Select NP_000518.1:p.Ile838GlyfsTer52
NM_001195798.2:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182727.1:p.Ile838GlyfsTer50
NM_001195799.2:c.2388_2389insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182728.1:p.Ile797GlyfsTer52
NM_001195800.2:c.2007_2008insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182729.1:p.Ile670GlyfsTer52
NM_001195803.2:c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG NP_001182732.1:p.Ile660GlyfsTer52
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