Canonical Allele Identifier: CA1274778564

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412910_101412911delinsAT , CM000664.2:g.101412910_101412911delinsAT	GRCh38
NC_000002.11:g.102029372_102029373delinsAT , CM000664.1:g.102029372_102029373delinsAT	GRCh37
NC_000002.10:g.101395804_101395805delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+4_1057+5delinsAT	ENSP00000494249.2:n.1057+4_1057+5delinsAT
ENST00000428343.6:c.718+4_718+5delinsAT MANE Select	ENSP00000401536.1:n.718+4_718+5delinsAT
ENST00000646446.1:c.931+4_931+5delinsAT	ENSP00000494216.1:n.931+4_931+5delinsAT
ENST00000646893.1:c.844+4_844+5delinsAT	ENSP00000494249.1:n.844+4_844+5delinsAT
ENST00000428343.5:c.718+4_718+5delinsAT	ENSP00000401536.1:n.718+4_718+5delinsAT
ENST00000481179.5:c.*434+4_*434+5delinsAT	ENSP00000422968.1:n.*434+4_*434+5delinsAT
NM_001145664.1:c.718+4_718+5delinsAT	NP_001139136.1:n.718+4_718+5delinsAT
XM_011511771.1:c.946+4_946+5delinsAT	XP_011510073.1:n.946+4_946+5delinsAT
XM_011511772.1:c.931+4_931+5delinsAT	XP_011510074.1:n.931+4_931+5delinsAT
XM_011511773.1:c.628+4_628+5delinsAT	XP_011510075.1:n.628+4_628+5delinsAT
XM_011511774.1:c.946+4_946+5delinsAT	XP_011510076.1:n.946+4_946+5delinsAT
XM_011511775.1:c.946+4_946+5delinsAT	XP_011510077.1:n.946+4_946+5delinsAT
XM_011511776.1:c.430+4_430+5delinsAT	XP_011510078.1:n.430+4_430+5delinsAT
XM_011511777.1:c.430+4_430+5delinsAT	XP_011510079.1:n.430+4_430+5delinsAT
XM_011511778.1:c.430+4_430+5delinsAT	XP_011510080.1:n.430+4_430+5delinsAT
XM_011511771.2:c.946+4_946+5delinsAT	XP_011510073.1:n.946+4_946+5delinsAT
XM_011511777.2:c.430+4_430+5delinsAT	XP_011510079.1:n.430+4_430+5delinsAT
XM_017004851.1:c.1057+4_1057+5delinsAT	XP_016860340.1:n.1057+4_1057+5delinsAT
XM_017004852.1:c.844+4_844+5delinsAT	XP_016860341.1:n.844+4_844+5delinsAT
XM_017004853.1:c.1057+4_1057+5delinsAT	XP_016860342.1:n.1057+4_1057+5delinsAT
XM_017004854.1:c.1057+4_1057+5delinsAT	XP_016860343.1:n.1057+4_1057+5delinsAT
XR_001738924.1:n.1001+4_1001+5delinsAT
NM_001145664.2:c.718+4_718+5delinsAT MANE Select	NP_001139136.2:n.718+4_718+5delinsAT
NM_001367508.1:c.205+4_205+5delinsAT	NP_001354437.1:n.205+4_205+5delinsAT
NM_001367509.1:c.205+4_205+5delinsAT	NP_001354438.1:n.205+4_205+5delinsAT
NM_001367510.1:c.205+4_205+5delinsAT	NP_001354439.1:n.205+4_205+5delinsAT