Canonical Allele Identifier: CA645513967

Gene: RFX8

Linked Data

• COSMIC: COSM4333299 ; COSM4333300

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412996_101412998del , CM000664.2:g.101412996_101412998del	GRCh38
NC_000002.11:g.102029458_102029460del , CM000664.1:g.102029458_102029460del	GRCh37
NC_000002.10:g.101395890_101395892del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.974_976del	ENSP00000494249.2:p.Gln325_Gly326delinsArg
ENST00000428343.6:c.635_637del MANE Select	ENSP00000401536.1:p.Gln212_Gly213delinsArg
ENST00000646446.1:c.848_850del	ENSP00000494216.1:p.Gln283_Gly284delinsArg
ENST00000646893.1:c.761_763del	ENSP00000494249.1:p.Gln254_Gly255delinsArg
ENST00000428343.5:c.635_637del	ENSP00000401536.1:p.Gln212_Gly213delinsArg
ENST00000481179.5:c.*351_*353del	ENSP00000422968.1:n.*351_*353del
NM_001145664.1:c.635_637del	NP_001139136.1:p.Gln212_Gly213delinsArg
XM_011511771.1:c.863_865del	XP_011510073.1:p.Gln288_Gly289delinsArg
XM_011511772.1:c.848_850del	XP_011510074.1:p.Gln283_Gly284delinsArg
XM_011511773.1:c.545_547del	XP_011510075.1:p.Gln182_Gly183delinsArg
XM_011511774.1:c.863_865del	XP_011510076.1:p.Gln288_Gly289delinsArg
XM_011511775.1:c.863_865del	XP_011510077.1:p.Gln288_Gly289delinsArg
XM_011511776.1:c.347_349del	XP_011510078.1:p.Gln116_Gly117delinsArg
XM_011511777.1:c.347_349del	XP_011510079.1:p.Gln116_Gly117delinsArg
XM_011511778.1:c.347_349del	XP_011510080.1:p.Gln116_Gly117delinsArg
XM_011511779.1:c.*48_*50del	XP_011510081.1:n.*48_*50del
XM_011511771.2:c.863_865del	XP_011510073.1:p.Gln288_Gly289delinsArg
XM_011511777.2:c.347_349del	XP_011510079.1:p.Gln116_Gly117delinsArg
XM_017004851.1:c.974_976del	XP_016860340.1:p.Gln325_Gly326delinsArg
XM_017004852.1:c.761_763del	XP_016860341.1:p.Gln254_Gly255delinsArg
XM_017004853.1:c.974_976del	XP_016860342.1:p.Gln325_Gly326delinsArg
XM_017004854.1:c.974_976del	XP_016860343.1:p.Gln325_Gly326delinsArg
XR_001738924.1:n.918_920del
NM_001145664.2:c.635_637del MANE Select	NP_001139136.2:p.Gln212_Gly213delinsArg
NM_001367508.1:c.122_124del	NP_001354437.1:p.Gln41_Gly42delinsArg
NM_001367509.1:c.122_124del	NP_001354438.1:p.Gln41_Gly42delinsArg
NM_001367510.1:c.122_124del	NP_001354439.1:p.Gln41_Gly42delinsArg