Canonical Allele Identifier: CA804717

Gene: CFAP57 EBNA1BP2

Linked Data

• dbSNP Id: rs767387494
• ExAC: 1:43672481 AAGAG / A
• gnomAD v2: 1-43672481-AAGAG-A
• gnomAD v4: 1-43206810-AAGAG-A
• MyVariant Identifiers: chr1:g.43672482_43672485del (hg19) ; chr1:g.43206811_43206814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43206816_43206819del , CM000663.2:g.43206816_43206819del	GRCh38
NC_000001.10:g.43672487_43672490del , CM000663.1:g.43672487_43672490del	GRCh37
NC_000001.9:g.43445074_43445077del	NCBI36
NG_028079.1:g.39487_39490del
NG_028079.2:g.39487_39490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372492.9:c.1639_1642del (CFAP57) MANE Select	ENSP00000361570.4:p.Glu547GlnfsTer?
ENST00000372492.8:c.1639_1642del (CFAP57)	ENSP00000361570.4:p.Glu547GlnfsTer?
ENST00000461557.2:n.233+4636_233+4639del (EBNA1BP2)
ENST00000466927.5:n.197+8452_197+8455del (EBNA1BP2)
ENST00000474566.1:n.420-422_420-419del (EBNA1BP2)
ENST00000528956.5:c.1639_1642del (CFAP57)	ENSP00000435310.1:p.Glu547GlnfsTer?
ENST00000533339.1:c.*1538_*1541del (CFAP57)	ENSP00000432547.1:n.*1538_*1541del
ENST00000610710.4:c.1639_1642del (CFAP57)	ENSP00000479773.1:p.Glu547GlnfsTer?
NM_001167965.1:c.1639_1642del (CFAP57)	NP_001161437.1:p.Glu547GlnfsTer?
NM_001195831.2:c.1639_1642del (CFAP57)	NP_001182760.2:p.Glu547GlnfsTer?
NM_152498.3:c.1639_1642del (CFAP57)	NP_689711.2:p.Glu547GlnfsTer?
XM_005270520.1:c.1639_1642del (CFAP57)	XP_005270577.1:p.Glu547GlnfsTer?
XM_006710383.1:c.1606_1609del (CFAP57)	XP_006710446.1:p.Glu536GlnfsTer?
XM_011540793.1:c.1639_1642del (CFAP57)	XP_011539095.1:p.Glu547GlnfsTer?
XM_011540794.1:c.1639_1642del (CFAP57)	XP_011539096.1:p.Glu547GlnfsTer?
XM_011540795.1:c.1639_1642del (CFAP57)	XP_011539097.1:p.Glu547GlnfsTer?
XM_011540796.1:c.1606_1609del (CFAP57)	XP_011539098.1:p.Glu536GlnfsTer?
XM_011540797.1:c.1576_1579del (CFAP57)	XP_011539099.1:p.Glu526GlnfsTer?
XM_011540798.1:c.1543-2927_1543-2924del (CFAP57)	XP_011539100.1:n.1543-2927_1543-2924del
XM_011540799.1:c.1542+7313_1542+7316del (CFAP57)	XP_011539101.1:n.1542+7313_1542+7316del
XM_011540800.1:c.1639_1642del (CFAP57)	XP_011539102.1:p.Glu547GlnfsTer?
XM_011540801.1:c.1639_1642del (CFAP57)	XP_011539103.1:p.Glu547GlnfsTer?
XR_947266.1:n.450-422_450-419del
XR_947267.1:n.455-422_455-419del
XR_947268.1:n.240-422_240-419del
XR_947269.1:n.1064-422_1064-419del
XR_947270.1:n.214-422_214-419del
XR_947271.1:n.885-422_885-419del
XR_947273.1:n.448+8452_448+8455del
XR_947274.1:n.453-422_453-419del
XM_005270520.2:c.1639_1642del (CFAP57)	XP_005270577.1:p.Glu547GlnfsTer?
XM_011540795.3:c.1639_1642del (CFAP57)	XP_011539097.1:p.Glu547GlnfsTer?
XM_011540797.2:c.1576_1579del (CFAP57)	XP_011539099.1:p.Glu526GlnfsTer?
XM_011540800.2:c.1639_1642del (CFAP57)	XP_011539102.1:p.Glu547GlnfsTer?
XM_017000421.1:c.1639_1642del (CFAP57)	XP_016855910.1:p.Glu547GlnfsTer?
XM_017000422.2:c.1639_1642del (CFAP57)	XP_016855911.1:p.Glu547GlnfsTer?
XR_001736994.2:n.1768_1771del (CFAP57)
XR_001738021.1:n.532-422_532-419del
XR_001738022.1:n.529-422_529-419del
XR_001738023.2:n.827-422_827-419del
XR_001738024.1:n.539+8452_539+8455del
XR_947266.2:n.521-422_521-419del
XR_947268.2:n.247-422_247-419del
XR_947271.2:n.888-422_888-419del
XR_947273.2:n.538+8452_538+8455del
XR_947274.2:n.827-422_827-419del
NM_001195831.3:c.1639_1642del (CFAP57)	NP_001182760.2:p.Glu547GlnfsTer?
NM_001378189.1:c.1639_1642del (CFAP57) MANE Select	NP_001365118.1:p.Glu547GlnfsTer?