Canonical Allele Identifier: CA619511202

Gene: FANCI POLG

Linked Data

• dbSNP Id: rs1411689103
• gnomAD v2: 15-89859539-GAAGA-G
• gnomAD v3: 15-89316308-GAAGA-G
• gnomAD v4: 15-89316308-GAAGA-G
• MyVariant Identifiers: chr15:g.89859540_89859543del (hg19) ; chr15:g.89316309_89316312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316309_89316312del , CM000677.2:g.89316309_89316312del	GRCh38
NC_000015.9:g.89859540_89859543del , CM000677.1:g.89859540_89859543del	GRCh37
NC_000015.8:g.87660544_87660547del	NCBI36
NG_008218.1:g.23484_23487del
NG_011736.1:g.77347_77350del , LRG_500:g.77347_77350del
NG_008218.2:g.23484_23487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3646-88_3646-85del (FANCI)	ENSP00000512830.1:n.3646-88_3646-85del
ENST00000696718.1:c.3388-88_3388-85del (FANCI)	ENSP00000512831.1:n.3388-88_3388-85del
ENST00000696719.1:c.3925-88_3925-85del (FANCI)	ENSP00000512832.1:n.3925-88_3925-85del
ENST00000696721.1:n.5510-88_5510-85del (FANCI)
ENST00000310775.12:c.3925-88_3925-85del (FANCI) MANE Select	ENSP00000310842.8:n.3925-88_3925-85del
ENST00000635831.1:c.73+394_73+397del (POLG)
ENST00000674831.1:c.4057-88_4057-85del (FANCI)	ENSP00000502474.1:n.4057-88_4057-85del
ENST00000675352.1:n.3130-88_3130-85del (FANCI)
ENST00000676003.1:c.3883-88_3883-85del (FANCI)	ENSP00000502254.1:n.3883-88_3883-85del
ENST00000676110.1:n.3506-88_3506-85del (FANCI)
ENST00000268124.9:c.*439_*442del (POLG)	ENSP00000268124.5:n.*439_*442del
ENST00000300027.12:c.3745-88_3745-85del (FANCI)	ENSP00000300027.8:n.3745-88_3745-85del
ENST00000310775.11:c.3925-88_3925-85del (FANCI)	ENSP00000310842.7:n.3925-88_3925-85del
ENST00000447611.6:c.*269-88_*269-85del (FANCI)	ENSP00000413249.2:n.*269-88_*269-85del
ENST00000561894.1:c.3221-88_3221-85del (FANCI)
ENST00000566615.1:n.508-88_508-85del (FANCI)
ENST00000566895.5:n.3932-88_3932-85del (FANCI)
ENST00000631044.2:c.*3583_*3586del (POLG)	ENSP00000486730.1:n.*3583_*3586del
NM_001113378.1:c.3925-88_3925-85del , LRG_500t1:c.3925-88_3925-85del (FANCI)	NP_001106849.1:n.3925-88_3925-85del
NM_001126131.1:c.*439_*442del (POLG)	NP_001119603.1:n.*439_*442del
NM_002693.2:c.*439_*442del (POLG)	NP_002684.1:n.*439_*442del
NM_018193.2:c.3745-88_3745-85del (FANCI)	NP_060663.2:n.3745-88_3745-85del
XM_011521756.1:c.3925-88_3925-85del (FANCI)	XP_011520058.1:n.3925-88_3925-85del
XM_011521757.1:c.3925-88_3925-85del (FANCI)	XP_011520059.1:n.3925-88_3925-85del
XM_011521758.1:c.3925-88_3925-85del (FANCI)	XP_011520060.1:n.3925-88_3925-85del
XM_011521759.1:c.3925-88_3925-85del (FANCI)	XP_011520061.1:n.3925-88_3925-85del
XM_011521760.1:c.3925-88_3925-85del (FANCI)	XP_011520062.1:n.3925-88_3925-85del
XM_011521761.1:c.3925-88_3925-85del (FANCI)	XP_011520063.1:n.3925-88_3925-85del
XM_011521762.1:c.3925-88_3925-85del (FANCI)	XP_011520064.1:n.3925-88_3925-85del
XM_011521763.1:c.3883-88_3883-85del (FANCI)	XP_011520065.1:n.3883-88_3883-85del
XM_011521764.1:c.3745-88_3745-85del (FANCI)	XP_011520066.1:n.3745-88_3745-85del
XM_011521765.1:c.3646-88_3646-85del (FANCI)	XP_011520067.1:n.3646-88_3646-85del
XM_011521766.1:c.3646-88_3646-85del (FANCI)	XP_011520068.1:n.3646-88_3646-85del
XM_011521767.1:c.3646-88_3646-85del (FANCI)	XP_011520069.1:n.3646-88_3646-85del
XM_011521769.1:c.3580-88_3580-85del (FANCI)	XP_011520071.1:n.3580-88_3580-85del
XM_011521756.2:c.3925-88_3925-85del (FANCI)	XP_011520058.1:n.3925-88_3925-85del
XM_011521757.2:c.3925-88_3925-85del (FANCI)	XP_011520059.1:n.3925-88_3925-85del
XM_011521764.2:c.3745-88_3745-85del (FANCI)	XP_011520066.1:n.3745-88_3745-85del
XM_011521767.2:c.3646-88_3646-85del (FANCI)	XP_011520069.1:n.3646-88_3646-85del
NM_001113378.2:c.3925-88_3925-85del (FANCI) MANE Select	NP_001106849.1:n.3925-88_3925-85del
NM_001376910.1:c.3646-88_3646-85del (FANCI)	NP_001363839.1:n.3646-88_3646-85del
NM_001376911.1:c.3925-88_3925-85del (FANCI)	NP_001363840.1:n.3925-88_3925-85del
NM_018193.3:c.3745-88_3745-85del (FANCI)	NP_060663.2:n.3745-88_3745-85del