Canonical Allele Identifier: CA2630253287

Gene: FANCI POLG

Linked Data

• gnomAD v4: 15-89315310-G-GCACCTCACGAGACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315313_89315327dup , CM000677.2:g.89315313_89315327dup	GRCh38
NC_000015.9:g.89858544_89858558dup , CM000677.1:g.89858544_89858558dup	GRCh37
NC_000015.8:g.87659548_87659562dup	NCBI36
NG_008218.1:g.24471_24485dup
NG_011736.1:g.76351_76365dup , LRG_500:g.76351_76365dup
NG_008218.2:g.24471_24485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3569_3583dup (FANCI)	ENSP00000512830.1:p.Phe1194_Lys1195insThrSerArgAspPhe
ENST00000696718.1:c.3311_3325dup (FANCI)	ENSP00000512831.1:p.Phe1108_Lys1109insThrSerArgAspPhe
ENST00000696719.1:c.3848_3862dup (FANCI)	ENSP00000512832.1:p.Phe1287_Lys1288insThrSerArgAspPhe
ENST00000696721.1:n.5433_5447dup (FANCI)
ENST00000310775.12:c.3848_3862dup (FANCI) MANE Select	ENSP00000310842.8:p.Phe1287_Lys1288insThrSerArgAspPhe
ENST00000635831.1:c.73+1381_73+1395dup (POLG)
ENST00000674831.1:c.3980_3994dup (FANCI)	ENSP00000502474.1:p.Phe1331_Lys1332insThrSerArgAspPhe
ENST00000675352.1:n.3053_3067dup (FANCI)
ENST00000676003.1:c.3806_3820dup (FANCI)	ENSP00000502254.1:p.Phe1273_Lys1274insThrSerArgAspPhe
ENST00000676110.1:n.3429_3443dup (FANCI)
ENST00000300027.12:c.3668_3682dup (FANCI)	ENSP00000300027.8:p.Phe1227_Lys1228insThrSerArgAspPhe
ENST00000310775.11:c.3848_3862dup (FANCI)	ENSP00000310842.7:p.Phe1287_Lys1288insThrSerArgAspPhe
ENST00000447611.6:c.*192_*206dup (FANCI)	ENSP00000413249.2:n.*192_*206dup
ENST00000561894.1:c.3144_3158dup (FANCI)
ENST00000566615.1:n.431_445dup (FANCI)
ENST00000566895.5:n.3855_3869dup (FANCI)
NM_001113378.1:c.3848_3862dup , LRG_500t1:c.3848_3862dup (FANCI)	NP_001106849.1:p.Phe1287_Lys1288insThrSerArgAspPhe
NM_018193.2:c.3668_3682dup (FANCI)	NP_060663.2:p.Phe1227_Lys1228insThrSerArgAspPhe
XM_011521756.1:c.3848_3862dup (FANCI)	XP_011520058.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521757.1:c.3848_3862dup (FANCI)	XP_011520059.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521758.1:c.3848_3862dup (FANCI)	XP_011520060.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521759.1:c.3848_3862dup (FANCI)	XP_011520061.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521760.1:c.3848_3862dup (FANCI)	XP_011520062.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521761.1:c.3848_3862dup (FANCI)	XP_011520063.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521762.1:c.3848_3862dup (FANCI)	XP_011520064.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521763.1:c.3806_3820dup (FANCI)	XP_011520065.1:p.Phe1273_Lys1274insThrSerArgAspPhe
XM_011521764.1:c.3668_3682dup (FANCI)	XP_011520066.1:p.Phe1227_Lys1228insThrSerArgAspPhe
XM_011521765.1:c.3569_3583dup (FANCI)	XP_011520067.1:p.Phe1194_Lys1195insThrSerArgAspPhe
XM_011521766.1:c.3569_3583dup (FANCI)	XP_011520068.1:p.Phe1194_Lys1195insThrSerArgAspPhe
XM_011521767.1:c.3569_3583dup (FANCI)	XP_011520069.1:p.Phe1194_Lys1195insThrSerArgAspPhe
XM_011521769.1:c.3503_3517dup (FANCI)	XP_011520071.1:p.Phe1172_Lys1173insThrSerArgAspPhe
XM_011521756.2:c.3848_3862dup (FANCI)	XP_011520058.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521757.2:c.3848_3862dup (FANCI)	XP_011520059.1:p.Phe1287_Lys1288insThrSerArgAspPhe
XM_011521764.2:c.3668_3682dup (FANCI)	XP_011520066.1:p.Phe1227_Lys1228insThrSerArgAspPhe
XM_011521767.2:c.3569_3583dup (FANCI)	XP_011520069.1:p.Phe1194_Lys1195insThrSerArgAspPhe
NM_001113378.2:c.3848_3862dup (FANCI) MANE Select	NP_001106849.1:p.Phe1287_Lys1288insThrSerArgAspPhe
NM_001376910.1:c.3569_3583dup (FANCI)	NP_001363839.1:p.Phe1194_Lys1195insThrSerArgAspPhe
NM_001376911.1:c.3848_3862dup (FANCI)	NP_001363840.1:p.Phe1287_Lys1288insThrSerArgAspPhe
NM_018193.3:c.3668_3682dup (FANCI)	NP_060663.2:p.Phe1227_Lys1228insThrSerArgAspPhe