Canonical Allele Identifier: CA1274778560

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412906_101412908delinsGAA , CM000664.2:g.101412906_101412908delinsGAA	GRCh38
NC_000002.11:g.102029368_102029370delinsGAA , CM000664.1:g.102029368_102029370delinsGAA	GRCh37
NC_000002.10:g.101395800_101395802delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+7_1057+9delinsTTC	ENSP00000494249.2:n.1057+7_1057+9delinsTTC
ENST00000428343.6:c.718+7_718+9delinsTTC MANE Select	ENSP00000401536.1:n.718+7_718+9delinsTTC
ENST00000646446.1:c.931+7_931+9delinsTTC	ENSP00000494216.1:n.931+7_931+9delinsTTC
ENST00000646893.1:c.844+7_844+9delinsTTC	ENSP00000494249.1:n.844+7_844+9delinsTTC
ENST00000428343.5:c.718+7_718+9delinsTTC	ENSP00000401536.1:n.718+7_718+9delinsTTC
ENST00000481179.5:c.*434+7_*434+9delinsTTC	ENSP00000422968.1:n.*434+7_*434+9delinsTTC
NM_001145664.1:c.718+7_718+9delinsTTC	NP_001139136.1:n.718+7_718+9delinsTTC
XM_011511771.1:c.946+7_946+9delinsTTC	XP_011510073.1:n.946+7_946+9delinsTTC
XM_011511772.1:c.931+7_931+9delinsTTC	XP_011510074.1:n.931+7_931+9delinsTTC
XM_011511773.1:c.628+7_628+9delinsTTC	XP_011510075.1:n.628+7_628+9delinsTTC
XM_011511774.1:c.946+7_946+9delinsTTC	XP_011510076.1:n.946+7_946+9delinsTTC
XM_011511775.1:c.946+7_946+9delinsTTC	XP_011510077.1:n.946+7_946+9delinsTTC
XM_011511776.1:c.430+7_430+9delinsTTC	XP_011510078.1:n.430+7_430+9delinsTTC
XM_011511777.1:c.430+7_430+9delinsTTC	XP_011510079.1:n.430+7_430+9delinsTTC
XM_011511778.1:c.430+7_430+9delinsTTC	XP_011510080.1:n.430+7_430+9delinsTTC
XM_011511771.2:c.946+7_946+9delinsTTC	XP_011510073.1:n.946+7_946+9delinsTTC
XM_011511777.2:c.430+7_430+9delinsTTC	XP_011510079.1:n.430+7_430+9delinsTTC
XM_017004851.1:c.1057+7_1057+9delinsTTC	XP_016860340.1:n.1057+7_1057+9delinsTTC
XM_017004852.1:c.844+7_844+9delinsTTC	XP_016860341.1:n.844+7_844+9delinsTTC
XM_017004853.1:c.1057+7_1057+9delinsTTC	XP_016860342.1:n.1057+7_1057+9delinsTTC
XM_017004854.1:c.1057+7_1057+9delinsTTC	XP_016860343.1:n.1057+7_1057+9delinsTTC
XR_001738924.1:n.1001+7_1001+9delinsTTC
NM_001145664.2:c.718+7_718+9delinsTTC MANE Select	NP_001139136.2:n.718+7_718+9delinsTTC
NM_001367508.1:c.205+7_205+9delinsTTC	NP_001354437.1:n.205+7_205+9delinsTTC
NM_001367509.1:c.205+7_205+9delinsTTC	NP_001354438.1:n.205+7_205+9delinsTTC
NM_001367510.1:c.205+7_205+9delinsTTC	NP_001354439.1:n.205+7_205+9delinsTTC