Canonical Allele Identifier: CA8407752

Linked Data

dbSNP Id: rs201953561

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16029345_16029348dup , CM000679.2:g.16029345_16029348dup GRCh38
NC_000017.10:g.15932659_15932662dup , CM000679.1:g.15932659_15932662dup GRCh37
NC_000017.9:g.15873384_15873387dup NCBI36
NG_029806.1:g.34966_34969dup
NG_047111.1:g.192401_192404dup

Transcript Alleles

HGVS Amino-acid change
ENST00000436068.2:c.*2950_*2953dup (NCOR1) ENSP00000389839.2:n.*2950_*2953dup
ENST00000704743.1:n.9221_9224dup (NCOR1)
ENST00000704744.1:c.*2950_*2953dup (NCOR1) ENSP00000516021.1:n.*2950_*2953dup
ENST00000704745.1:c.*2950_*2953dup (NCOR1) ENSP00000516022.1:n.*2950_*2953dup
ENST00000261647.10:c.*1823_*1826dup (TTC19) MANE Select ENSP00000261647.5:n.*1823_*1826dup
ENST00000268712.8:c.*2950_*2953dup (NCOR1) MANE Select ENSP00000268712.2:n.*2950_*2953dup
ENST00000268712.7:c.*2950_*2953dup (NCOR1) ENSP00000268712.2:n.*2950_*2953dup
ENST00000470649.1:c.247+2643_247+2646dup (TTC19) ENSP00000465627.1:n.247+2643_247+2646dup
NM_001271420.1:c.*1823_*1826dup (TTC19) NP_001258349.1:n.*1823_*1826dup
NM_017775.3:c.*1823_*1826dup (TTC19) NP_060245.3:n.*1823_*1826dup
XM_017024801.2:c.994+2643_994+2646dup (TTC19) XP_016880290.2:n.994+2643_994+2646dup
XM_017024802.2:c.994+2643_994+2646dup (TTC19) XP_016880291.2:n.994+2643_994+2646dup
NM_006311.4:c.*2950_*2953dup (NCOR1) MANE Select NP_006302.2:n.*2950_*2953dup
NM_017775.4:c.*1823_*1826dup (TTC19) MANE Select NP_060245.3:n.*1823_*1826dup
NM_001271420.2:c.*1823_*1826dup (TTC19) NP_001258349.1:n.*1823_*1826dup