Canonical Allele Identifier: CA2630253288

Gene: FANCI POLG

Linked Data

• gnomAD v4: 15-89315319-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315320dup , CM000677.2:g.89315320dup	GRCh38
NC_000015.9:g.89858551dup , CM000677.1:g.89858551dup	GRCh37
NC_000015.8:g.87659555dup	NCBI36
NG_008218.1:g.24476dup
NG_011736.1:g.76358dup , LRG_500:g.76358dup
NG_008218.2:g.24476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3576dup (FANCI)	ENSP00000512830.1:p.Asp1193ArgfsTer18
ENST00000696718.1:c.3318dup (FANCI)	ENSP00000512831.1:p.Asp1107ArgfsTer18
ENST00000696719.1:c.3855dup (FANCI)	ENSP00000512832.1:p.Asp1286ArgfsTer18
ENST00000696721.1:n.5440dup (FANCI)
ENST00000310775.12:c.3855dup (FANCI) MANE Select	ENSP00000310842.8:p.Asp1286ArgfsTer18
ENST00000635831.1:c.73+1386dup (POLG)
ENST00000674831.1:c.3987dup (FANCI)	ENSP00000502474.1:p.Asp1330ArgfsTer18
ENST00000675352.1:n.3060dup (FANCI)
ENST00000676003.1:c.3813dup (FANCI)	ENSP00000502254.1:p.Asp1272ArgfsTer18
ENST00000676110.1:n.3436dup (FANCI)
ENST00000300027.12:c.3675dup (FANCI)	ENSP00000300027.8:p.Asp1226ArgfsTer18
ENST00000310775.11:c.3855dup (FANCI)	ENSP00000310842.7:p.Asp1286ArgfsTer18
ENST00000447611.6:c.*199dup (FANCI)	ENSP00000413249.2:n.*199dup
ENST00000561894.1:c.3151dup (FANCI)
ENST00000566615.1:n.438dup (FANCI)
ENST00000566895.5:n.3862dup (FANCI)
NM_001113378.1:c.3855dup , LRG_500t1:c.3855dup (FANCI)	NP_001106849.1:p.Asp1286ArgfsTer18
NM_018193.2:c.3675dup (FANCI)	NP_060663.2:p.Asp1226ArgfsTer18
XM_011521756.1:c.3855dup (FANCI)	XP_011520058.1:p.Asp1286ArgfsTer18
XM_011521757.1:c.3855dup (FANCI)	XP_011520059.1:p.Asp1286ArgfsTer18
XM_011521758.1:c.3855dup (FANCI)	XP_011520060.1:p.Asp1286ArgfsTer18
XM_011521759.1:c.3855dup (FANCI)	XP_011520061.1:p.Asp1286ArgfsTer18
XM_011521760.1:c.3855dup (FANCI)	XP_011520062.1:p.Asp1286ArgfsTer18
XM_011521761.1:c.3855dup (FANCI)	XP_011520063.1:p.Asp1286ArgfsTer18
XM_011521762.1:c.3855dup (FANCI)	XP_011520064.1:p.Asp1286ArgfsTer18
XM_011521763.1:c.3813dup (FANCI)	XP_011520065.1:p.Asp1272ArgfsTer18
XM_011521764.1:c.3675dup (FANCI)	XP_011520066.1:p.Asp1226ArgfsTer18
XM_011521765.1:c.3576dup (FANCI)	XP_011520067.1:p.Asp1193ArgfsTer18
XM_011521766.1:c.3576dup (FANCI)	XP_011520068.1:p.Asp1193ArgfsTer18
XM_011521767.1:c.3576dup (FANCI)	XP_011520069.1:p.Asp1193ArgfsTer18
XM_011521769.1:c.3510dup (FANCI)	XP_011520071.1:p.Asp1171ArgfsTer18
XM_011521756.2:c.3855dup (FANCI)	XP_011520058.1:p.Asp1286ArgfsTer18
XM_011521757.2:c.3855dup (FANCI)	XP_011520059.1:p.Asp1286ArgfsTer18
XM_011521764.2:c.3675dup (FANCI)	XP_011520066.1:p.Asp1226ArgfsTer18
XM_011521767.2:c.3576dup (FANCI)	XP_011520069.1:p.Asp1193ArgfsTer18
NM_001113378.2:c.3855dup (FANCI) MANE Select	NP_001106849.1:p.Asp1286ArgfsTer18
NM_001376910.1:c.3576dup (FANCI)	NP_001363839.1:p.Asp1193ArgfsTer18
NM_001376911.1:c.3855dup (FANCI)	NP_001363840.1:p.Asp1286ArgfsTer18
NM_018193.3:c.3675dup (FANCI)	NP_060663.2:p.Asp1226ArgfsTer18