Canonical Allele Identifier: CA2630253911

Gene: FANCI POLG

Linked Data

• gnomAD v4: 15-89316306-G-GAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316310_89316312dup , CM000677.2:g.89316310_89316312dup	GRCh38
NC_000015.9:g.89859541_89859543dup , CM000677.1:g.89859541_89859543dup	GRCh37
NC_000015.8:g.87660545_87660547dup	NCBI36
NG_008218.1:g.23487_23489dup
NG_011736.1:g.77348_77350dup , LRG_500:g.77348_77350dup
NG_008218.2:g.23487_23489dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3646-87_3646-85dup (FANCI)	ENSP00000512830.1:n.3646-87_3646-85dup
ENST00000696718.1:c.3388-87_3388-85dup (FANCI)	ENSP00000512831.1:n.3388-87_3388-85dup
ENST00000696719.1:c.3925-87_3925-85dup (FANCI)	ENSP00000512832.1:n.3925-87_3925-85dup
ENST00000696721.1:n.5510-87_5510-85dup (FANCI)
ENST00000310775.12:c.3925-87_3925-85dup (FANCI) MANE Select	ENSP00000310842.8:n.3925-87_3925-85dup
ENST00000635831.1:c.73+397_73+399dup (POLG)
ENST00000674831.1:c.4057-87_4057-85dup (FANCI)	ENSP00000502474.1:n.4057-87_4057-85dup
ENST00000675352.1:n.3130-87_3130-85dup (FANCI)
ENST00000676003.1:c.3883-87_3883-85dup (FANCI)	ENSP00000502254.1:n.3883-87_3883-85dup
ENST00000676110.1:n.3506-87_3506-85dup (FANCI)
ENST00000268124.9:c.*442_*444dup (POLG)	ENSP00000268124.5:n.*442_*444dup
ENST00000300027.12:c.3745-87_3745-85dup (FANCI)	ENSP00000300027.8:n.3745-87_3745-85dup
ENST00000310775.11:c.3925-87_3925-85dup (FANCI)	ENSP00000310842.7:n.3925-87_3925-85dup
ENST00000447611.6:c.*269-87_*269-85dup (FANCI)	ENSP00000413249.2:n.*269-87_*269-85dup
ENST00000561894.1:c.3221-87_3221-85dup (FANCI)
ENST00000566615.1:n.508-87_508-85dup (FANCI)
ENST00000566895.5:n.3932-87_3932-85dup (FANCI)
ENST00000631044.2:c.*3586_*3588dup (POLG)	ENSP00000486730.1:n.*3586_*3588dup
NM_001113378.1:c.3925-87_3925-85dup , LRG_500t1:c.3925-87_3925-85dup (FANCI)	NP_001106849.1:n.3925-87_3925-85dup
NM_001126131.1:c.*442_*444dup (POLG)	NP_001119603.1:n.*442_*444dup
NM_002693.2:c.*442_*444dup (POLG)	NP_002684.1:n.*442_*444dup
NM_018193.2:c.3745-87_3745-85dup (FANCI)	NP_060663.2:n.3745-87_3745-85dup
XM_011521756.1:c.3925-87_3925-85dup (FANCI)	XP_011520058.1:n.3925-87_3925-85dup
XM_011521757.1:c.3925-87_3925-85dup (FANCI)	XP_011520059.1:n.3925-87_3925-85dup
XM_011521758.1:c.3925-87_3925-85dup (FANCI)	XP_011520060.1:n.3925-87_3925-85dup
XM_011521759.1:c.3925-87_3925-85dup (FANCI)	XP_011520061.1:n.3925-87_3925-85dup
XM_011521760.1:c.3925-87_3925-85dup (FANCI)	XP_011520062.1:n.3925-87_3925-85dup
XM_011521761.1:c.3925-87_3925-85dup (FANCI)	XP_011520063.1:n.3925-87_3925-85dup
XM_011521762.1:c.3925-87_3925-85dup (FANCI)	XP_011520064.1:n.3925-87_3925-85dup
XM_011521763.1:c.3883-87_3883-85dup (FANCI)	XP_011520065.1:n.3883-87_3883-85dup
XM_011521764.1:c.3745-87_3745-85dup (FANCI)	XP_011520066.1:n.3745-87_3745-85dup
XM_011521765.1:c.3646-87_3646-85dup (FANCI)	XP_011520067.1:n.3646-87_3646-85dup
XM_011521766.1:c.3646-87_3646-85dup (FANCI)	XP_011520068.1:n.3646-87_3646-85dup
XM_011521767.1:c.3646-87_3646-85dup (FANCI)	XP_011520069.1:n.3646-87_3646-85dup
XM_011521769.1:c.3580-87_3580-85dup (FANCI)	XP_011520071.1:n.3580-87_3580-85dup
XM_011521756.2:c.3925-87_3925-85dup (FANCI)	XP_011520058.1:n.3925-87_3925-85dup
XM_011521757.2:c.3925-87_3925-85dup (FANCI)	XP_011520059.1:n.3925-87_3925-85dup
XM_011521764.2:c.3745-87_3745-85dup (FANCI)	XP_011520066.1:n.3745-87_3745-85dup
XM_011521767.2:c.3646-87_3646-85dup (FANCI)	XP_011520069.1:n.3646-87_3646-85dup
NM_001113378.2:c.3925-87_3925-85dup (FANCI) MANE Select	NP_001106849.1:n.3925-87_3925-85dup
NM_001376910.1:c.3646-87_3646-85dup (FANCI)	NP_001363839.1:n.3646-87_3646-85dup
NM_001376911.1:c.3925-87_3925-85dup (FANCI)	NP_001363840.1:n.3925-87_3925-85dup
NM_018193.3:c.3745-87_3745-85dup (FANCI)	NP_060663.2:n.3745-87_3745-85dup