Canonical Allele Identifier: CA1165524852

Gene: CFAP57 EBNA1BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43206810_43206814delinsAAGAG , CM000663.2:g.43206810_43206814delinsAAGAG	GRCh38
NC_000001.10:g.43672481_43672485delinsAAGAG , CM000663.1:g.43672481_43672485delinsAAGAG	GRCh37
NC_000001.9:g.43445068_43445072delinsAAGAG	NCBI36
NG_028079.1:g.39481_39485delinsAAGAG
NG_028079.2:g.39481_39485delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372492.9:c.1633_1637delinsAAGAG (CFAP57) MANE Select	ENSP00000361570.4:p.Lys545=
ENST00000372492.8:c.1633_1637delinsAAGAG (CFAP57)	ENSP00000361570.4:p.Lys545=
ENST00000461557.2:n.233+4636_233+4640delinsCTCTT (EBNA1BP2)
ENST00000466927.5:n.197+8452_197+8456delinsCTCTT (EBNA1BP2)
ENST00000474566.1:n.420-422_420-418delinsCTCTT (EBNA1BP2)
ENST00000528956.5:c.1633_1637delinsAAGAG (CFAP57)	ENSP00000435310.1:p.Lys545=
ENST00000533339.1:c.*1532_*1536delinsAAGAG (CFAP57)	ENSP00000432547.1:n.*1532_*1536delinsAAGAG
ENST00000610710.4:c.1633_1637delinsAAGAG (CFAP57)	ENSP00000479773.1:p.Lys545=
NM_001167965.1:c.1633_1637delinsAAGAG (CFAP57)	NP_001161437.1:p.Lys545=
NM_001195831.2:c.1633_1637delinsAAGAG (CFAP57)	NP_001182760.2:p.Lys545=
NM_152498.3:c.1633_1637delinsAAGAG (CFAP57)	NP_689711.2:p.Lys545=
XM_005270520.1:c.1633_1637delinsAAGAG (CFAP57)	XP_005270577.1:p.Lys545=
XM_006710383.1:c.1600_1604delinsAAGAG (CFAP57)	XP_006710446.1:p.Lys534=
XM_011540793.1:c.1633_1637delinsAAGAG (CFAP57)	XP_011539095.1:p.Lys545=
XM_011540794.1:c.1633_1637delinsAAGAG (CFAP57)	XP_011539096.1:p.Lys545=
XM_011540795.1:c.1633_1637delinsAAGAG (CFAP57)	XP_011539097.1:p.Lys545=
XM_011540796.1:c.1600_1604delinsAAGAG (CFAP57)	XP_011539098.1:p.Lys534=
XM_011540797.1:c.1570_1574delinsAAGAG (CFAP57)	XP_011539099.1:p.Lys524=
XM_011540798.1:c.1543-2933_1543-2929delinsAAGAG (CFAP57)	XP_011539100.1:n.1543-2933_1543-2929delinsAAGAG
XM_011540799.1:c.1542+7307_1542+7311delinsAAGAG (CFAP57)	XP_011539101.1:n.1542+7307_1542+7311delinsAAGAG
XM_011540800.1:c.1633_1637delinsAAGAG (CFAP57)	XP_011539102.1:p.Lys545=
XM_011540801.1:c.1633_1637delinsAAGAG (CFAP57)	XP_011539103.1:p.Lys545=
XR_947266.1:n.450-422_450-418delinsCTCTT
XR_947267.1:n.455-422_455-418delinsCTCTT
XR_947268.1:n.240-422_240-418delinsCTCTT
XR_947269.1:n.1064-422_1064-418delinsCTCTT
XR_947270.1:n.214-422_214-418delinsCTCTT
XR_947271.1:n.885-422_885-418delinsCTCTT
XR_947273.1:n.448+8452_448+8456delinsCTCTT
XR_947274.1:n.453-422_453-418delinsCTCTT
XM_005270520.2:c.1633_1637delinsAAGAG (CFAP57)	XP_005270577.1:p.Lys545=
XM_011540795.3:c.1633_1637delinsAAGAG (CFAP57)	XP_011539097.1:p.Lys545=
XM_011540797.2:c.1570_1574delinsAAGAG (CFAP57)	XP_011539099.1:p.Lys524=
XM_011540800.2:c.1633_1637delinsAAGAG (CFAP57)	XP_011539102.1:p.Lys545=
XM_017000421.1:c.1633_1637delinsAAGAG (CFAP57)	XP_016855910.1:p.Lys545=
XM_017000422.2:c.1633_1637delinsAAGAG (CFAP57)	XP_016855911.1:p.Lys545=
XR_001736994.2:n.1762_1766delinsAAGAG (CFAP57)
XR_001738021.1:n.532-422_532-418delinsCTCTT
XR_001738022.1:n.529-422_529-418delinsCTCTT
XR_001738023.2:n.827-422_827-418delinsCTCTT
XR_001738024.1:n.539+8452_539+8456delinsCTCTT
XR_947266.2:n.521-422_521-418delinsCTCTT
XR_947268.2:n.247-422_247-418delinsCTCTT
XR_947271.2:n.888-422_888-418delinsCTCTT
XR_947273.2:n.538+8452_538+8456delinsCTCTT
XR_947274.2:n.827-422_827-418delinsCTCTT
NM_001195831.3:c.1633_1637delinsAAGAG (CFAP57)	NP_001182760.2:p.Lys545=
NM_001378189.1:c.1633_1637delinsAAGAG (CFAP57) MANE Select	NP_001365118.1:p.Lys545=