Canonical Allele Identifier: CA2573151239

Gene: FANCI POLG

Linked Data

• ClinVar Variation Id: 1396190
• ClinVar RCV Id: RCV001891585
• dbSNP Id: rs2152030819

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315329_89315334del , CM000677.2:g.89315329_89315334del	GRCh38
NC_000015.9:g.89858560_89858565del , CM000677.1:g.89858560_89858565del	GRCh37
NC_000015.8:g.87659564_87659569del	NCBI36
NG_008218.1:g.24466_24471del
NG_011736.1:g.76367_76372del , LRG_500:g.76367_76372del
NG_008218.2:g.24466_24471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3585_3590del (FANCI)	ENSP00000512830.1:p.Ile1196_Lys1197del
ENST00000696718.1:c.3327_3332del (FANCI)	ENSP00000512831.1:p.Ile1110_Lys1111del
ENST00000696719.1:c.3864_3869del (FANCI)	ENSP00000512832.1:p.Ile1289_Lys1290del
ENST00000696721.1:n.5449_5454del (FANCI)
ENST00000310775.12:c.3864_3869del (FANCI) MANE Select	ENSP00000310842.8:p.Ile1289_Lys1290del
ENST00000635831.1:c.73+1376_73+1381del (POLG)
ENST00000674831.1:c.3996_4001del (FANCI)	ENSP00000502474.1:p.Ile1333_Lys1334del
ENST00000675352.1:n.3069_3074del (FANCI)
ENST00000676003.1:c.3822_3827del (FANCI)	ENSP00000502254.1:p.Ile1275_Lys1276del
ENST00000676110.1:n.3445_3450del (FANCI)
ENST00000300027.12:c.3684_3689del (FANCI)	ENSP00000300027.8:p.Ile1229_Lys1230del
ENST00000310775.11:c.3864_3869del (FANCI)	ENSP00000310842.7:p.Ile1289_Lys1290del
ENST00000447611.6:c.*208_*213del (FANCI)	ENSP00000413249.2:n.*208_*213del
ENST00000561894.1:c.3160_3165del (FANCI)
ENST00000566615.1:n.447_452del (FANCI)
ENST00000566895.5:n.3871_3876del (FANCI)
NM_001113378.1:c.3864_3869del , LRG_500t1:c.3864_3869del (FANCI)	NP_001106849.1:p.Ile1289_Lys1290del
NM_018193.2:c.3684_3689del (FANCI)	NP_060663.2:p.Ile1229_Lys1230del
XM_011521756.1:c.3864_3869del (FANCI)	XP_011520058.1:p.Ile1289_Lys1290del
XM_011521757.1:c.3864_3869del (FANCI)	XP_011520059.1:p.Ile1289_Lys1290del
XM_011521758.1:c.3864_3869del (FANCI)	XP_011520060.1:p.Ile1289_Lys1290del
XM_011521759.1:c.3864_3869del (FANCI)	XP_011520061.1:p.Ile1289_Lys1290del
XM_011521760.1:c.3864_3869del (FANCI)	XP_011520062.1:p.Ile1289_Lys1290del
XM_011521761.1:c.3864_3869del (FANCI)	XP_011520063.1:p.Ile1289_Lys1290del
XM_011521762.1:c.3864_3869del (FANCI)	XP_011520064.1:p.Ile1289_Lys1290del
XM_011521763.1:c.3822_3827del (FANCI)	XP_011520065.1:p.Ile1275_Lys1276del
XM_011521764.1:c.3684_3689del (FANCI)	XP_011520066.1:p.Ile1229_Lys1230del
XM_011521765.1:c.3585_3590del (FANCI)	XP_011520067.1:p.Ile1196_Lys1197del
XM_011521766.1:c.3585_3590del (FANCI)	XP_011520068.1:p.Ile1196_Lys1197del
XM_011521767.1:c.3585_3590del (FANCI)	XP_011520069.1:p.Ile1196_Lys1197del
XM_011521769.1:c.3519_3524del (FANCI)	XP_011520071.1:p.Ile1174_Lys1175del
XM_011521756.2:c.3864_3869del (FANCI)	XP_011520058.1:p.Ile1289_Lys1290del
XM_011521757.2:c.3864_3869del (FANCI)	XP_011520059.1:p.Ile1289_Lys1290del
XM_011521764.2:c.3684_3689del (FANCI)	XP_011520066.1:p.Ile1229_Lys1230del
XM_011521767.2:c.3585_3590del (FANCI)	XP_011520069.1:p.Ile1196_Lys1197del
NM_001113378.2:c.3864_3869del (FANCI) MANE Select	NP_001106849.1:p.Ile1289_Lys1290del
NM_001376910.1:c.3585_3590del (FANCI)	NP_001363839.1:p.Ile1196_Lys1197del
NM_001376911.1:c.3864_3869del (FANCI)	NP_001363840.1:p.Ile1289_Lys1290del
NM_018193.3:c.3684_3689del (FANCI)	NP_060663.2:p.Ile1229_Lys1230del