Canonical Allele Identifier: CA2999039809

Gene: FANCI POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315315_89315332dup , CM000677.2:g.89315315_89315332dup	GRCh38
NC_000015.9:g.89858546_89858563dup , CM000677.1:g.89858546_89858563dup	GRCh37
NC_000015.8:g.87659550_87659567dup	NCBI36
NG_008218.1:g.24465_24482dup
NG_011736.1:g.76353_76370dup , LRG_500:g.76353_76370dup
NG_008218.2:g.24465_24482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3571_3588dup (FANCI)	ENSP00000512830.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
ENST00000696718.1:c.3313_3330dup (FANCI)	ENSP00000512831.1:p.Ile1110_Lys1111insSerArgAspPheLysIle
ENST00000696719.1:c.3850_3867dup (FANCI)	ENSP00000512832.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
ENST00000696721.1:n.5435_5452dup (FANCI)
ENST00000310775.12:c.3850_3867dup (FANCI) MANE Select	ENSP00000310842.8:p.Ile1289_Lys1290insSerArgAspPheLysIle
ENST00000635831.1:c.73+1375_73+1392dup (POLG)
ENST00000674831.1:c.3982_3999dup (FANCI)	ENSP00000502474.1:p.Ile1333_Lys1334insSerArgAspPheLysIle
ENST00000675352.1:n.3055_3072dup (FANCI)
ENST00000676003.1:c.3808_3825dup (FANCI)	ENSP00000502254.1:p.Ile1275_Lys1276insSerArgAspPheLysIle
ENST00000676110.1:n.3431_3448dup (FANCI)
ENST00000300027.12:c.3670_3687dup (FANCI)	ENSP00000300027.8:p.Ile1229_Lys1230insSerArgAspPheLysIle
ENST00000310775.11:c.3850_3867dup (FANCI)	ENSP00000310842.7:p.Ile1289_Lys1290insSerArgAspPheLysIle
ENST00000447611.6:c.*194_*211dup (FANCI)	ENSP00000413249.2:n.*194_*211dup
ENST00000561894.1:c.3146_3163dup (FANCI)
ENST00000566615.1:n.433_450dup (FANCI)
ENST00000566895.5:n.3857_3874dup (FANCI)
NM_001113378.1:c.3850_3867dup , LRG_500t1:c.3850_3867dup (FANCI)	NP_001106849.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
NM_018193.2:c.3670_3687dup (FANCI)	NP_060663.2:p.Ile1229_Lys1230insSerArgAspPheLysIle
XM_011521756.1:c.3850_3867dup (FANCI)	XP_011520058.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521757.1:c.3850_3867dup (FANCI)	XP_011520059.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521758.1:c.3850_3867dup (FANCI)	XP_011520060.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521759.1:c.3850_3867dup (FANCI)	XP_011520061.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521760.1:c.3850_3867dup (FANCI)	XP_011520062.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521761.1:c.3850_3867dup (FANCI)	XP_011520063.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521762.1:c.3850_3867dup (FANCI)	XP_011520064.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521763.1:c.3808_3825dup (FANCI)	XP_011520065.1:p.Ile1275_Lys1276insSerArgAspPheLysIle
XM_011521764.1:c.3670_3687dup (FANCI)	XP_011520066.1:p.Ile1229_Lys1230insSerArgAspPheLysIle
XM_011521765.1:c.3571_3588dup (FANCI)	XP_011520067.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
XM_011521766.1:c.3571_3588dup (FANCI)	XP_011520068.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
XM_011521767.1:c.3571_3588dup (FANCI)	XP_011520069.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
XM_011521769.1:c.3505_3522dup (FANCI)	XP_011520071.1:p.Ile1174_Lys1175insSerArgAspPheLysIle
XM_011521756.2:c.3850_3867dup (FANCI)	XP_011520058.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521757.2:c.3850_3867dup (FANCI)	XP_011520059.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
XM_011521764.2:c.3670_3687dup (FANCI)	XP_011520066.1:p.Ile1229_Lys1230insSerArgAspPheLysIle
XM_011521767.2:c.3571_3588dup (FANCI)	XP_011520069.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
NM_001113378.2:c.3850_3867dup (FANCI) MANE Select	NP_001106849.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
NM_001376910.1:c.3571_3588dup (FANCI)	NP_001363839.1:p.Ile1196_Lys1197insSerArgAspPheLysIle
NM_001376911.1:c.3850_3867dup (FANCI)	NP_001363840.1:p.Ile1289_Lys1290insSerArgAspPheLysIle
NM_018193.3:c.3670_3687dup (FANCI)	NP_060663.2:p.Ile1229_Lys1230insSerArgAspPheLysIle