Canonical Allele Identifier: CA2194536302

Gene: FANCI POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316306_89316313delinsGAGAAGAT , CM000677.2:g.89316306_89316313delinsGAGAAGAT	GRCh38
NC_000015.9:g.89859537_89859544delinsGAGAAGAT , CM000677.1:g.89859537_89859544delinsGAGAAGAT	GRCh37
NC_000015.8:g.87660541_87660548delinsGAGAAGAT	NCBI36
NG_008218.1:g.23483_23490delinsATCTTCTC
NG_011736.1:g.77344_77351delinsGAGAAGAT , LRG_500:g.77344_77351delinsGAGAAGAT
NG_008218.2:g.23483_23490delinsATCTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	ENSP00000512830.1:n.3646-91_3646-84delinsGAGAAGAT
ENST00000696718.1:c.3388-91_3388-84delinsGAGAAGAT (FANCI)	ENSP00000512831.1:n.3388-91_3388-84delinsGAGAAGAT
ENST00000696719.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	ENSP00000512832.1:n.3925-91_3925-84delinsGAGAAGAT
ENST00000696721.1:n.5510-91_5510-84delinsGAGAAGAT (FANCI)
ENST00000310775.12:c.3925-91_3925-84delinsGAGAAGAT (FANCI) MANE Select	ENSP00000310842.8:n.3925-91_3925-84delinsGAGAAGAT
ENST00000635831.1:c.73+393_73+400delinsATCTTCTC (POLG)
ENST00000674831.1:c.4057-91_4057-84delinsGAGAAGAT (FANCI)	ENSP00000502474.1:n.4057-91_4057-84delinsGAGAAGAT
ENST00000675352.1:n.3130-91_3130-84delinsGAGAAGAT (FANCI)
ENST00000676003.1:c.3883-91_3883-84delinsGAGAAGAT (FANCI)	ENSP00000502254.1:n.3883-91_3883-84delinsGAGAAGAT
ENST00000676110.1:n.3506-91_3506-84delinsGAGAAGAT (FANCI)
ENST00000268124.9:c.*438_*445delinsATCTTCTC (POLG)	ENSP00000268124.5:n.*438_*445delinsATCTTCTC
ENST00000300027.12:c.3745-91_3745-84delinsGAGAAGAT (FANCI)	ENSP00000300027.8:n.3745-91_3745-84delinsGAGAAGAT
ENST00000310775.11:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	ENSP00000310842.7:n.3925-91_3925-84delinsGAGAAGAT
ENST00000447611.6:c.*269-91_*269-84delinsGAGAAGAT (FANCI)	ENSP00000413249.2:n.*269-91_*269-84delinsGAGAAGAT
ENST00000561894.1:c.3221-91_3221-84delinsGAGAAGAT (FANCI)
ENST00000566615.1:n.508-91_508-84delinsGAGAAGAT (FANCI)
ENST00000566895.5:n.3932-91_3932-84delinsGAGAAGAT (FANCI)
ENST00000631044.2:c.*3582_*3589delinsATCTTCTC (POLG)	ENSP00000486730.1:n.*3582_*3589delinsATCTTCTC
NM_001113378.1:c.3925-91_3925-84delinsGAGAAGAT , LRG_500t1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	NP_001106849.1:n.3925-91_3925-84delinsGAGAAGAT
NM_001126131.1:c.*438_*445delinsATCTTCTC (POLG)	NP_001119603.1:n.*438_*445delinsATCTTCTC
NM_002693.2:c.*438_*445delinsATCTTCTC (POLG)	NP_002684.1:n.*438_*445delinsATCTTCTC
NM_018193.2:c.3745-91_3745-84delinsGAGAAGAT (FANCI)	NP_060663.2:n.3745-91_3745-84delinsGAGAAGAT
XM_011521756.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520058.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521757.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520059.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521758.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520060.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521759.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520061.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521760.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520062.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521761.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520063.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521762.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520064.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521763.1:c.3883-91_3883-84delinsGAGAAGAT (FANCI)	XP_011520065.1:n.3883-91_3883-84delinsGAGAAGAT
XM_011521764.1:c.3745-91_3745-84delinsGAGAAGAT (FANCI)	XP_011520066.1:n.3745-91_3745-84delinsGAGAAGAT
XM_011521765.1:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	XP_011520067.1:n.3646-91_3646-84delinsGAGAAGAT
XM_011521766.1:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	XP_011520068.1:n.3646-91_3646-84delinsGAGAAGAT
XM_011521767.1:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	XP_011520069.1:n.3646-91_3646-84delinsGAGAAGAT
XM_011521769.1:c.3580-91_3580-84delinsGAGAAGAT (FANCI)	XP_011520071.1:n.3580-91_3580-84delinsGAGAAGAT
XM_011521756.2:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520058.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521757.2:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	XP_011520059.1:n.3925-91_3925-84delinsGAGAAGAT
XM_011521764.2:c.3745-91_3745-84delinsGAGAAGAT (FANCI)	XP_011520066.1:n.3745-91_3745-84delinsGAGAAGAT
XM_011521767.2:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	XP_011520069.1:n.3646-91_3646-84delinsGAGAAGAT
NM_001113378.2:c.3925-91_3925-84delinsGAGAAGAT (FANCI) MANE Select	NP_001106849.1:n.3925-91_3925-84delinsGAGAAGAT
NM_001376910.1:c.3646-91_3646-84delinsGAGAAGAT (FANCI)	NP_001363839.1:n.3646-91_3646-84delinsGAGAAGAT
NM_001376911.1:c.3925-91_3925-84delinsGAGAAGAT (FANCI)	NP_001363840.1:n.3925-91_3925-84delinsGAGAAGAT
NM_018193.3:c.3745-91_3745-84delinsGAGAAGAT (FANCI)	NP_060663.2:n.3745-91_3745-84delinsGAGAAGAT