Canonical Allele Identifier: CA2751448472
Gene: RFX8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.101413221_101413222del , CM000664.2:g.101413221_101413222del GRCh38
NC_000002.11:g.102029683_102029684del , CM000664.1:g.102029683_102029684del GRCh37
NC_000002.10:g.101396115_101396116del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646893.2:c.901-151_901-150del ENSP00000494249.2:n.901-151_901-150del
ENST00000428343.6:c.562-151_562-150del MANE Select ENSP00000401536.1:n.562-151_562-150del
ENST00000646446.1:c.775-151_775-150del ENSP00000494216.1:n.775-151_775-150del
ENST00000646893.1:c.688-151_688-150del ENSP00000494249.1:n.688-151_688-150del
ENST00000428343.5:c.562-151_562-150del ENSP00000401536.1:n.562-151_562-150del
ENST00000481179.5:c.*278-151_*278-150del ENSP00000422968.1:n.*278-151_*278-150del
NM_001145664.1:c.562-151_562-150del NP_001139136.1:n.562-151_562-150del
XM_011511771.1:c.790-151_790-150del XP_011510073.1:n.790-151_790-150del
XM_011511772.1:c.775-151_775-150del XP_011510074.1:n.775-151_775-150del
XM_011511773.1:c.472-151_472-150del XP_011510075.1:n.472-151_472-150del
XM_011511774.1:c.790-151_790-150del XP_011510076.1:n.790-151_790-150del
XM_011511775.1:c.790-151_790-150del XP_011510077.1:n.790-151_790-150del
XM_011511776.1:c.274-151_274-150del XP_011510078.1:n.274-151_274-150del
XM_011511777.1:c.274-151_274-150del XP_011510079.1:n.274-151_274-150del
XM_011511778.1:c.274-151_274-150del XP_011510080.1:n.274-151_274-150del
XM_011511779.1:c.731-151_731-150del XP_011510081.1:n.731-151_731-150del
XM_011511771.2:c.790-151_790-150del XP_011510073.1:n.790-151_790-150del
XM_011511777.2:c.274-151_274-150del XP_011510079.1:n.274-151_274-150del
XM_017004851.1:c.901-151_901-150del XP_016860340.1:n.901-151_901-150del
XM_017004852.1:c.688-151_688-150del XP_016860341.1:n.688-151_688-150del
XM_017004853.1:c.901-151_901-150del XP_016860342.1:n.901-151_901-150del
XM_017004854.1:c.901-151_901-150del XP_016860343.1:n.901-151_901-150del
XR_001738924.1:n.845-151_845-150del
NM_001145664.2:c.562-151_562-150del MANE Select NP_001139136.2:n.562-151_562-150del
NM_001367508.1:c.49-151_49-150del NP_001354437.1:n.49-151_49-150del
NM_001367509.1:c.49-151_49-150del NP_001354438.1:n.49-151_49-150del
NM_001367510.1:c.49-151_49-150del NP_001354439.1:n.49-151_49-150del