Canonical Allele Identifier: CA1165524856

Gene: CFAP57 EBNA1BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43206816_43206820delinsGAGAC , CM000663.2:g.43206816_43206820delinsGAGAC	GRCh38
NC_000001.10:g.43672487_43672491delinsGAGAC , CM000663.1:g.43672487_43672491delinsGAGAC	GRCh37
NC_000001.9:g.43445074_43445078delinsGAGAC	NCBI36
NG_028079.1:g.39487_39491delinsGAGAC
NG_028079.2:g.39487_39491delinsGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372492.9:c.1639_1643delinsGAGAC (CFAP57) MANE Select	ENSP00000361570.4:p.Glu547=
ENST00000372492.8:c.1639_1643delinsGAGAC (CFAP57)	ENSP00000361570.4:p.Glu547=
ENST00000461557.2:n.233+4630_233+4634delinsGTCTC (EBNA1BP2)
ENST00000466927.5:n.197+8446_197+8450delinsGTCTC (EBNA1BP2)
ENST00000474566.1:n.420-428_420-424delinsGTCTC (EBNA1BP2)
ENST00000528956.5:c.1639_1643delinsGAGAC (CFAP57)	ENSP00000435310.1:p.Glu547=
ENST00000533339.1:c.*1538_*1542delinsGAGAC (CFAP57)	ENSP00000432547.1:n.*1538_*1542delinsGAGAC
ENST00000610710.4:c.1639_1643delinsGAGAC (CFAP57)	ENSP00000479773.1:p.Glu547=
NM_001167965.1:c.1639_1643delinsGAGAC (CFAP57)	NP_001161437.1:p.Glu547=
NM_001195831.2:c.1639_1643delinsGAGAC (CFAP57)	NP_001182760.2:p.Glu547=
NM_152498.3:c.1639_1643delinsGAGAC (CFAP57)	NP_689711.2:p.Glu547=
XM_005270520.1:c.1639_1643delinsGAGAC (CFAP57)	XP_005270577.1:p.Glu547=
XM_006710383.1:c.1606_1610delinsGAGAC (CFAP57)	XP_006710446.1:p.Glu536=
XM_011540793.1:c.1639_1643delinsGAGAC (CFAP57)	XP_011539095.1:p.Glu547=
XM_011540794.1:c.1639_1643delinsGAGAC (CFAP57)	XP_011539096.1:p.Glu547=
XM_011540795.1:c.1639_1643delinsGAGAC (CFAP57)	XP_011539097.1:p.Glu547=
XM_011540796.1:c.1606_1610delinsGAGAC (CFAP57)	XP_011539098.1:p.Glu536=
XM_011540797.1:c.1576_1580delinsGAGAC (CFAP57)	XP_011539099.1:p.Glu526=
XM_011540798.1:c.1543-2927_1543-2923delinsGAGAC (CFAP57)	XP_011539100.1:n.1543-2927_1543-2923delinsGAGAC
XM_011540799.1:c.1542+7313_1542+7317delinsGAGAC (CFAP57)	XP_011539101.1:n.1542+7313_1542+7317delinsGAGAC
XM_011540800.1:c.1639_1643delinsGAGAC (CFAP57)	XP_011539102.1:p.Glu547=
XM_011540801.1:c.1639_1643delinsGAGAC (CFAP57)	XP_011539103.1:p.Glu547=
XR_947266.1:n.450-428_450-424delinsGTCTC
XR_947267.1:n.455-428_455-424delinsGTCTC
XR_947268.1:n.240-428_240-424delinsGTCTC
XR_947269.1:n.1064-428_1064-424delinsGTCTC
XR_947270.1:n.214-428_214-424delinsGTCTC
XR_947271.1:n.885-428_885-424delinsGTCTC
XR_947273.1:n.448+8446_448+8450delinsGTCTC
XR_947274.1:n.453-428_453-424delinsGTCTC
XM_005270520.2:c.1639_1643delinsGAGAC (CFAP57)	XP_005270577.1:p.Glu547=
XM_011540795.3:c.1639_1643delinsGAGAC (CFAP57)	XP_011539097.1:p.Glu547=
XM_011540797.2:c.1576_1580delinsGAGAC (CFAP57)	XP_011539099.1:p.Glu526=
XM_011540800.2:c.1639_1643delinsGAGAC (CFAP57)	XP_011539102.1:p.Glu547=
XM_017000421.1:c.1639_1643delinsGAGAC (CFAP57)	XP_016855910.1:p.Glu547=
XM_017000422.2:c.1639_1643delinsGAGAC (CFAP57)	XP_016855911.1:p.Glu547=
XR_001736994.2:n.1768_1772delinsGAGAC (CFAP57)
XR_001738021.1:n.532-428_532-424delinsGTCTC
XR_001738022.1:n.529-428_529-424delinsGTCTC
XR_001738023.2:n.827-428_827-424delinsGTCTC
XR_001738024.1:n.539+8446_539+8450delinsGTCTC
XR_947266.2:n.521-428_521-424delinsGTCTC
XR_947268.2:n.247-428_247-424delinsGTCTC
XR_947271.2:n.888-428_888-424delinsGTCTC
XR_947273.2:n.538+8446_538+8450delinsGTCTC
XR_947274.2:n.827-428_827-424delinsGTCTC
NM_001195831.3:c.1639_1643delinsGAGAC (CFAP57)	NP_001182760.2:p.Glu547=
NM_001378189.1:c.1639_1643delinsGAGAC (CFAP57) MANE Select	NP_001365118.1:p.Glu547=