Canonical Allele Identifier: CA1274778604

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412998_101412999delinsTG , CM000664.2:g.101412998_101412999delinsTG	GRCh38
NC_000002.11:g.102029460_102029461delinsTG , CM000664.1:g.102029460_102029461delinsTG	GRCh37
NC_000002.10:g.101395892_101395893delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.973_974delinsCA	ENSP00000494249.2:p.Gln325=
ENST00000428343.6:c.634_635delinsCA MANE Select	ENSP00000401536.1:p.Gln212=
ENST00000646446.1:c.847_848delinsCA	ENSP00000494216.1:p.Gln283=
ENST00000646893.1:c.760_761delinsCA	ENSP00000494249.1:p.Gln254=
ENST00000428343.5:c.634_635delinsCA	ENSP00000401536.1:p.Gln212=
ENST00000481179.5:c.*350_*351delinsCA	ENSP00000422968.1:n.*350_*351delinsCA
NM_001145664.1:c.634_635delinsCA	NP_001139136.1:p.Gln212=
XM_011511771.1:c.862_863delinsCA	XP_011510073.1:p.Gln288=
XM_011511772.1:c.847_848delinsCA	XP_011510074.1:p.Gln283=
XM_011511773.1:c.544_545delinsCA	XP_011510075.1:p.Gln182=
XM_011511774.1:c.862_863delinsCA	XP_011510076.1:p.Gln288=
XM_011511775.1:c.862_863delinsCA	XP_011510077.1:p.Gln288=
XM_011511776.1:c.346_347delinsCA	XP_011510078.1:p.Gln116=
XM_011511777.1:c.346_347delinsCA	XP_011510079.1:p.Gln116=
XM_011511778.1:c.346_347delinsCA	XP_011510080.1:p.Gln116=
XM_011511779.1:c.*47_*48delinsCA	XP_011510081.1:n.*47_*48delinsCA
XM_011511771.2:c.862_863delinsCA	XP_011510073.1:p.Gln288=
XM_011511777.2:c.346_347delinsCA	XP_011510079.1:p.Gln116=
XM_017004851.1:c.973_974delinsCA	XP_016860340.1:p.Gln325=
XM_017004852.1:c.760_761delinsCA	XP_016860341.1:p.Gln254=
XM_017004853.1:c.973_974delinsCA	XP_016860342.1:p.Gln325=
XM_017004854.1:c.973_974delinsCA	XP_016860343.1:p.Gln325=
XR_001738924.1:n.917_918delinsCA
NM_001145664.2:c.634_635delinsCA MANE Select	NP_001139136.2:p.Gln212=
NM_001367508.1:c.121_122delinsCA	NP_001354437.1:p.Gln41=
NM_001367509.1:c.121_122delinsCA	NP_001354438.1:p.Gln41=
NM_001367510.1:c.121_122delinsCA	NP_001354439.1:p.Gln41=