Canonical Allele Identifier: CA2660437694

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412914-C-CATTTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412915_101412921dup , CM000664.2:g.101412915_101412921dup	GRCh38
NC_000002.11:g.102029377_102029383dup , CM000664.1:g.102029377_102029383dup	GRCh37
NC_000002.10:g.101395809_101395815dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1051_1057dup	ENSP00000494249.2:p.Cys353TyrfsTer?
ENST00000428343.6:c.712_718dup MANE Select	ENSP00000401536.1:p.Cys240TyrfsTer?
ENST00000646446.1:c.925_931dup	ENSP00000494216.1:p.Cys311TyrfsTer?
ENST00000646893.1:c.838_844dup	ENSP00000494249.1:p.Cys282TyrfsTer?
ENST00000428343.5:c.712_718dup	ENSP00000401536.1:p.Cys240TyrfsTer?
ENST00000481179.5:c.*428_*434dup	ENSP00000422968.1:n.*428_*434dup
NM_001145664.1:c.712_718dup	NP_001139136.1:p.Cys240TyrfsTer?
XM_011511771.1:c.940_946dup	XP_011510073.1:p.Cys316TyrfsTer?
XM_011511772.1:c.925_931dup	XP_011510074.1:p.Cys311TyrfsTer?
XM_011511773.1:c.622_628dup	XP_011510075.1:p.Cys210TyrfsTer?
XM_011511774.1:c.940_946dup	XP_011510076.1:p.Cys316TyrfsTer?
XM_011511775.1:c.940_946dup	XP_011510077.1:p.Cys316TyrfsTer?
XM_011511776.1:c.424_430dup	XP_011510078.1:p.Cys144TyrfsTer?
XM_011511777.1:c.424_430dup	XP_011510079.1:p.Cys144TyrfsTer?
XM_011511778.1:c.424_430dup	XP_011510080.1:p.Cys144TyrfsTer?
XM_011511771.2:c.940_946dup	XP_011510073.1:p.Cys316TyrfsTer?
XM_011511777.2:c.424_430dup	XP_011510079.1:p.Cys144TyrfsTer?
XM_017004851.1:c.1051_1057dup	XP_016860340.1:p.Cys353TyrfsTer?
XM_017004852.1:c.838_844dup	XP_016860341.1:p.Cys282TyrfsTer?
XM_017004853.1:c.1051_1057dup	XP_016860342.1:p.Cys353TyrfsTer?
XM_017004854.1:c.1051_1057dup	XP_016860343.1:p.Cys353TyrfsTer?
XR_001738924.1:n.995_1001dup
NM_001145664.2:c.712_718dup MANE Select	NP_001139136.2:p.Cys240TyrfsTer?
NM_001367508.1:c.199_205dup	NP_001354437.1:p.Cys69TyrfsTer?
NM_001367509.1:c.199_205dup	NP_001354438.1:p.Cys69TyrfsTer?
NM_001367510.1:c.199_205dup	NP_001354439.1:p.Cys69TyrfsTer?