Canonical Allele Identifier: CA619511201

Gene: FANCI POLG

Linked Data

• dbSNP Id: rs1180101551
• gnomAD v2: 15-89859529-G-GCTTTGATGAGAAGATAGAGT
• gnomAD v3: 15-89316298-G-GCTTTGATGAGAAGATAGAGT
• gnomAD v4: 15-89316298-G-GCTTTGATGAGAAGATAGAGT
• MyVariant Identifiers: chr15:g.89859529_89859530insCTTTGATGAGAAGATAGAGT (hg19) ; chr15:g.89316298_89316299insCTTTGATGAGAAGATAGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316303_89316322dup , CM000677.2:g.89316303_89316322dup	GRCh38
NC_000015.9:g.89859534_89859553dup , CM000677.1:g.89859534_89859553dup	GRCh37
NC_000015.8:g.87660538_87660557dup	NCBI36
NG_008218.1:g.23478_23497dup
NG_011736.1:g.77341_77360dup , LRG_500:g.77341_77360dup
NG_008218.2:g.23478_23497dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3646-94_3646-75dup (FANCI)	ENSP00000512830.1:n.3646-94_3646-75dup
ENST00000696718.1:c.3388-94_3388-75dup (FANCI)	ENSP00000512831.1:n.3388-94_3388-75dup
ENST00000696719.1:c.3925-94_3925-75dup (FANCI)	ENSP00000512832.1:n.3925-94_3925-75dup
ENST00000696721.1:n.5510-94_5510-75dup (FANCI)
ENST00000310775.12:c.3925-94_3925-75dup (FANCI) MANE Select	ENSP00000310842.8:n.3925-94_3925-75dup
ENST00000635831.1:c.73+388_73+407dup (POLG)
ENST00000674831.1:c.4057-94_4057-75dup (FANCI)	ENSP00000502474.1:n.4057-94_4057-75dup
ENST00000675352.1:n.3130-94_3130-75dup (FANCI)
ENST00000676003.1:c.3883-94_3883-75dup (FANCI)	ENSP00000502254.1:n.3883-94_3883-75dup
ENST00000676110.1:n.3506-94_3506-75dup (FANCI)
ENST00000300027.12:c.3745-94_3745-75dup (FANCI)	ENSP00000300027.8:n.3745-94_3745-75dup
ENST00000310775.11:c.3925-94_3925-75dup (FANCI)	ENSP00000310842.7:n.3925-94_3925-75dup
ENST00000447611.6:c.*269-94_*269-75dup (FANCI)	ENSP00000413249.2:n.*269-94_*269-75dup
ENST00000561894.1:c.3221-94_3221-75dup (FANCI)
ENST00000566615.1:n.508-94_508-75dup (FANCI)
ENST00000566895.5:n.3932-94_3932-75dup (FANCI)
NM_001113378.1:c.3925-94_3925-75dup , LRG_500t1:c.3925-94_3925-75dup (FANCI)	NP_001106849.1:n.3925-94_3925-75dup
NM_018193.2:c.3745-94_3745-75dup (FANCI)	NP_060663.2:n.3745-94_3745-75dup
XM_011521756.1:c.3925-94_3925-75dup (FANCI)	XP_011520058.1:n.3925-94_3925-75dup
XM_011521757.1:c.3925-94_3925-75dup (FANCI)	XP_011520059.1:n.3925-94_3925-75dup
XM_011521758.1:c.3925-94_3925-75dup (FANCI)	XP_011520060.1:n.3925-94_3925-75dup
XM_011521759.1:c.3925-94_3925-75dup (FANCI)	XP_011520061.1:n.3925-94_3925-75dup
XM_011521760.1:c.3925-94_3925-75dup (FANCI)	XP_011520062.1:n.3925-94_3925-75dup
XM_011521761.1:c.3925-94_3925-75dup (FANCI)	XP_011520063.1:n.3925-94_3925-75dup
XM_011521762.1:c.3925-94_3925-75dup (FANCI)	XP_011520064.1:n.3925-94_3925-75dup
XM_011521763.1:c.3883-94_3883-75dup (FANCI)	XP_011520065.1:n.3883-94_3883-75dup
XM_011521764.1:c.3745-94_3745-75dup (FANCI)	XP_011520066.1:n.3745-94_3745-75dup
XM_011521765.1:c.3646-94_3646-75dup (FANCI)	XP_011520067.1:n.3646-94_3646-75dup
XM_011521766.1:c.3646-94_3646-75dup (FANCI)	XP_011520068.1:n.3646-94_3646-75dup
XM_011521767.1:c.3646-94_3646-75dup (FANCI)	XP_011520069.1:n.3646-94_3646-75dup
XM_011521769.1:c.3580-94_3580-75dup (FANCI)	XP_011520071.1:n.3580-94_3580-75dup
XM_011521756.2:c.3925-94_3925-75dup (FANCI)	XP_011520058.1:n.3925-94_3925-75dup
XM_011521757.2:c.3925-94_3925-75dup (FANCI)	XP_011520059.1:n.3925-94_3925-75dup
XM_011521764.2:c.3745-94_3745-75dup (FANCI)	XP_011520066.1:n.3745-94_3745-75dup
XM_011521767.2:c.3646-94_3646-75dup (FANCI)	XP_011520069.1:n.3646-94_3646-75dup
NM_001113378.2:c.3925-94_3925-75dup (FANCI) MANE Select	NP_001106849.1:n.3925-94_3925-75dup
NM_001376910.1:c.3646-94_3646-75dup (FANCI)	NP_001363839.1:n.3646-94_3646-75dup
NM_001376911.1:c.3925-94_3925-75dup (FANCI)	NP_001363840.1:n.3925-94_3925-75dup
NM_018193.3:c.3745-94_3745-75dup (FANCI)	NP_060663.2:n.3745-94_3745-75dup