Canonical Allele Identifier: CA2547662446

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16029498_16029499insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG , CM000679.2:g.16029498_16029499insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG GRCh38
NC_000017.10:g.15932812_15932813insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG , CM000679.1:g.15932812_15932813insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG GRCh37
NC_000017.9:g.15873537_15873538insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG NCBI36
NG_029806.1:g.35119_35120insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG
NG_047111.1:g.192248_192249insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000436068.2:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) ENSP00000389839.2:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCA...
ENST00000704743.1:n.9068_9069insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1)
ENST00000704744.1:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) ENSP00000516021.1:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCA...
ENST00000704745.1:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) ENSP00000516022.1:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCA...
ENST00000268712.8:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) MANE Select ENSP00000268712.2:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCA...
ENST00000268712.7:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) ENSP00000268712.2:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCA...
ENST00000470649.1:c.247+2796_247+2797insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG (TTC19) ENSP00000465627.1:n.247+2796_247+2797insGGCGAGGTACGAATTTAATTG...
XM_017024801.2:c.994+2796_994+2797insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG (TTC19) XP_016880290.2:n.994+2796_994+2797insGGCGAGGTACGAATTTAATTGCGT...
XM_017024802.2:c.994+2796_994+2797insGGCGAGGTACGAATTTAATTGCGTGCAAATGTACTCATTTTTCCCCACACCGTGGCGTTTTTCTCCCGTGTTTTTTGTGCTTTTTCGGTTGTTTCAAACTACGCTGAGGCCGAAGAAAAAGTTCACACCCG (TTC19) XP_016880291.2:n.994+2796_994+2797insGGCGAGGTACGAATTTAATTGCGT...
NM_006311.4:c.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAGTTTGAAACAACCGAAAAAGCACAAAAAACACGGGAGAAAAACGCCACGGTGTGGGGAAAAATGAGTACATTTGCACGCAATTAAATTCGTACCTCGCC (NCOR1) MANE Select NP_006302.2:n.*2797_*2798insCGGGTGTGAACTTTTTCTTCGGCCTCAGCGTAG...