Canonical Allele Identifier: CA2512008487

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412760_101412761insTTT , CM000664.2:g.101412760_101412761insTTT	GRCh38
NC_000002.11:g.102029222_102029223insTTT , CM000664.1:g.102029222_102029223insTTT	GRCh37
NC_000002.10:g.101395654_101395655insTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+154_1057+155insAAA	ENSP00000494249.2:n.1057+154_1057+155insAAA
ENST00000428343.6:c.718+154_718+155insAAA MANE Select	ENSP00000401536.1:n.718+154_718+155insAAA
ENST00000646446.1:c.931+154_931+155insAAA	ENSP00000494216.1:n.931+154_931+155insAAA
ENST00000646893.1:c.844+154_844+155insAAA	ENSP00000494249.1:n.844+154_844+155insAAA
ENST00000428343.5:c.718+154_718+155insAAA	ENSP00000401536.1:n.718+154_718+155insAAA
ENST00000481179.5:c.*434+154_*434+155insAAA	ENSP00000422968.1:n.*434+154_*434+155insAAA
NM_001145664.1:c.718+154_718+155insAAA	NP_001139136.1:n.718+154_718+155insAAA
XM_011511771.1:c.946+154_946+155insAAA	XP_011510073.1:n.946+154_946+155insAAA
XM_011511772.1:c.931+154_931+155insAAA	XP_011510074.1:n.931+154_931+155insAAA
XM_011511773.1:c.628+154_628+155insAAA	XP_011510075.1:n.628+154_628+155insAAA
XM_011511774.1:c.946+154_946+155insAAA	XP_011510076.1:n.946+154_946+155insAAA
XM_011511775.1:c.946+154_946+155insAAA	XP_011510077.1:n.946+154_946+155insAAA
XM_011511776.1:c.430+154_430+155insAAA	XP_011510078.1:n.430+154_430+155insAAA
XM_011511777.1:c.430+154_430+155insAAA	XP_011510079.1:n.430+154_430+155insAAA
XM_011511778.1:c.430+154_430+155insAAA	XP_011510080.1:n.430+154_430+155insAAA
XM_011511771.2:c.946+154_946+155insAAA	XP_011510073.1:n.946+154_946+155insAAA
XM_011511777.2:c.430+154_430+155insAAA	XP_011510079.1:n.430+154_430+155insAAA
XM_017004851.1:c.1057+154_1057+155insAAA	XP_016860340.1:n.1057+154_1057+155insAAA
XM_017004852.1:c.844+154_844+155insAAA	XP_016860341.1:n.844+154_844+155insAAA
XM_017004853.1:c.1057+154_1057+155insAAA	XP_016860342.1:n.1057+154_1057+155insAAA
XM_017004854.1:c.1057+154_1057+155insAAA	XP_016860343.1:n.1057+154_1057+155insAAA
XR_001738924.1:n.1001+154_1001+155insAAA
NM_001145664.2:c.718+154_718+155insAAA MANE Select	NP_001139136.2:n.718+154_718+155insAAA
NM_001367508.1:c.205+154_205+155insAAA	NP_001354437.1:n.205+154_205+155insAAA
NM_001367509.1:c.205+154_205+155insAAA	NP_001354438.1:n.205+154_205+155insAAA
NM_001367510.1:c.205+154_205+155insAAA	NP_001354439.1:n.205+154_205+155insAAA