Canonical Allele Identifier: CA2630253901

Gene: FANCI POLG

Linked Data

• gnomAD v4: 15-89316299-CTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316301_89316341del , CM000677.2:g.89316301_89316341del	GRCh38
NC_000015.9:g.89859532_89859572del , CM000677.1:g.89859532_89859572del	GRCh37
NC_000015.8:g.87660536_87660576del	NCBI36
NG_008218.1:g.23456_23496del
NG_011736.1:g.77339_77379del , LRG_500:g.77339_77379del
NG_008218.2:g.23456_23496del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3646-96_3646-56del (FANCI)	ENSP00000512830.1:n.3646-96_3646-56del
ENST00000696718.1:c.3388-96_3388-56del (FANCI)	ENSP00000512831.1:n.3388-96_3388-56del
ENST00000696719.1:c.3925-96_3925-56del (FANCI)	ENSP00000512832.1:n.3925-96_3925-56del
ENST00000696721.1:n.5510-96_5510-56del (FANCI)
ENST00000310775.12:c.3925-96_3925-56del (FANCI) MANE Select	ENSP00000310842.8:n.3925-96_3925-56del
ENST00000635831.1:c.73+366_73+406del (POLG)
ENST00000674831.1:c.4057-96_4057-56del (FANCI)	ENSP00000502474.1:n.4057-96_4057-56del
ENST00000675352.1:n.3130-96_3130-56del (FANCI)
ENST00000676003.1:c.3883-96_3883-56del (FANCI)	ENSP00000502254.1:n.3883-96_3883-56del
ENST00000676110.1:n.3506-96_3506-56del (FANCI)
ENST00000300027.12:c.3745-96_3745-56del (FANCI)	ENSP00000300027.8:n.3745-96_3745-56del
ENST00000310775.11:c.3925-96_3925-56del (FANCI)	ENSP00000310842.7:n.3925-96_3925-56del
ENST00000447611.6:c.*269-96_*269-56del (FANCI)	ENSP00000413249.2:n.*269-96_*269-56del
ENST00000561894.1:c.3221-96_3221-56del (FANCI)
ENST00000566615.1:n.508-96_508-56del (FANCI)
ENST00000566895.5:n.3932-96_3932-56del (FANCI)
NM_001113378.1:c.3925-96_3925-56del , LRG_500t1:c.3925-96_3925-56del (FANCI)	NP_001106849.1:n.3925-96_3925-56del
NM_018193.2:c.3745-96_3745-56del (FANCI)	NP_060663.2:n.3745-96_3745-56del
XM_011521756.1:c.3925-96_3925-56del (FANCI)	XP_011520058.1:n.3925-96_3925-56del
XM_011521757.1:c.3925-96_3925-56del (FANCI)	XP_011520059.1:n.3925-96_3925-56del
XM_011521758.1:c.3925-96_3925-56del (FANCI)	XP_011520060.1:n.3925-96_3925-56del
XM_011521759.1:c.3925-96_3925-56del (FANCI)	XP_011520061.1:n.3925-96_3925-56del
XM_011521760.1:c.3925-96_3925-56del (FANCI)	XP_011520062.1:n.3925-96_3925-56del
XM_011521761.1:c.3925-96_3925-56del (FANCI)	XP_011520063.1:n.3925-96_3925-56del
XM_011521762.1:c.3925-96_3925-56del (FANCI)	XP_011520064.1:n.3925-96_3925-56del
XM_011521763.1:c.3883-96_3883-56del (FANCI)	XP_011520065.1:n.3883-96_3883-56del
XM_011521764.1:c.3745-96_3745-56del (FANCI)	XP_011520066.1:n.3745-96_3745-56del
XM_011521765.1:c.3646-96_3646-56del (FANCI)	XP_011520067.1:n.3646-96_3646-56del
XM_011521766.1:c.3646-96_3646-56del (FANCI)	XP_011520068.1:n.3646-96_3646-56del
XM_011521767.1:c.3646-96_3646-56del (FANCI)	XP_011520069.1:n.3646-96_3646-56del
XM_011521769.1:c.3580-96_3580-56del (FANCI)	XP_011520071.1:n.3580-96_3580-56del
XM_011521756.2:c.3925-96_3925-56del (FANCI)	XP_011520058.1:n.3925-96_3925-56del
XM_011521757.2:c.3925-96_3925-56del (FANCI)	XP_011520059.1:n.3925-96_3925-56del
XM_011521764.2:c.3745-96_3745-56del (FANCI)	XP_011520066.1:n.3745-96_3745-56del
XM_011521767.2:c.3646-96_3646-56del (FANCI)	XP_011520069.1:n.3646-96_3646-56del
NM_001113378.2:c.3925-96_3925-56del (FANCI) MANE Select	NP_001106849.1:n.3925-96_3925-56del
NM_001376910.1:c.3646-96_3646-56del (FANCI)	NP_001363839.1:n.3646-96_3646-56del
NM_001376911.1:c.3925-96_3925-56del (FANCI)	NP_001363840.1:n.3925-96_3925-56del
NM_018193.3:c.3745-96_3745-56del (FANCI)	NP_060663.2:n.3745-96_3745-56del