Canonical Allele Identifier: CA2194537084

Gene: POLG FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316629_89316636delinsCTGAAAAA , CM000677.2:g.89316629_89316636delinsCTGAAAAA	GRCh38
NC_000015.9:g.89859860_89859867delinsCTGAAAAA , CM000677.1:g.89859860_89859867delinsCTGAAAAA	GRCh37
NC_000015.8:g.87660864_87660871delinsCTGAAAAA	NCBI36
NG_008218.1:g.23160_23167delinsTTTTTCAG
NG_011736.1:g.77667_77674delinsCTGAAAAA , LRG_500:g.77667_77674delinsCTGAAAAA
NG_008218.2:g.23160_23167delinsTTTTTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*115_*122delinsTTTTTCAG (POLG)	ENSP00000516154.1:n.*115_*122delinsTTTTTCAG
ENST00000696717.1:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000512830.1:n.*170_*177delinsCTGAAAAA
ENST00000696718.1:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000512831.1:n.*170_*177delinsCTGAAAAA
ENST00000696719.1:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000512832.1:n.*170_*177delinsCTGAAAAA
ENST00000268124.11:c.*115_*122delinsTTTTTCAG (POLG) MANE Select	ENSP00000268124.5:n.*115_*122delinsTTTTTCAG
ENST00000310775.12:c.*170_*177delinsCTGAAAAA (FANCI) MANE Select	ENSP00000310842.8:n.*170_*177delinsCTGAAAAA
ENST00000530292.3:c.3535_3542delinsTTTTTCAG (POLG)	ENSP00000432885.2:n.3535_3542delinsTTTTTCAG
ENST00000635831.1:c.73+70_73+77delinsTTTTTCAG (POLG)
ENST00000635986.2:c.*905_*912delinsTTTTTCAG (POLG)	ENSP00000490653.2:n.*905_*912delinsTTTTTCAG
ENST00000637238.1:c.2743_2750delinsTTTTTCAG (POLG)	ENSP00000490756.1:n.2743_2750delinsTTTTTCAG
ENST00000637264.1:c.2847_2854delinsTTTTTCAG (POLG)
ENST00000666746.1:c.3412_3419delinsTTTTTCAG (POLG)
ENST00000672071.1:n.5037_5044delinsTTTTTCAG (POLG)
ENST00000672695.1:n.1614_1621delinsTTTTTCAG (POLG)
ENST00000672923.2:n.3835_3842delinsTTTTTCAG (POLG)
ENST00000675352.1:n.3362_3369delinsCTGAAAAA (FANCI)
ENST00000676003.1:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000502254.1:n.*170_*177delinsCTGAAAAA
ENST00000676110.1:n.3738_3745delinsCTGAAAAA (FANCI)
ENST00000268124.9:c.*115_*122delinsTTTTTCAG (POLG)	ENSP00000268124.5:n.*115_*122delinsTTTTTCAG
ENST00000300027.12:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000300027.8:n.*170_*177delinsCTGAAAAA
ENST00000310775.11:c.*170_*177delinsCTGAAAAA (FANCI)	ENSP00000310842.7:n.*170_*177delinsCTGAAAAA
ENST00000442287.6:c.*115_*122delinsTTTTTCAG (POLG)	ENSP00000399851.2:n.*115_*122delinsTTTTTCAG
ENST00000526671.1:n.645_652delinsTTTTTCAG (POLG)
ENST00000530292.2:c.1018_1025delinsTTTTTCAG (POLG)	ENSP00000432885.1:n.1018_1025delinsTTTTTCAG
ENST00000566895.5:n.4164_4171delinsCTGAAAAA (FANCI)
ENST00000631044.2:c.*3259_*3266delinsTTTTTCAG (POLG)	ENSP00000486730.1:n.*3259_*3266delinsTTTTTCAG
NM_001113378.1:c.*170_*177delinsCTGAAAAA , LRG_500t1:c.*170_*177delinsCTGAAAAA (FANCI)	NP_001106849.1:n.*170_*177delinsCTGAAAAA
NM_001126131.1:c.*115_*122delinsTTTTTCAG (POLG)	NP_001119603.1:n.*115_*122delinsTTTTTCAG
NM_002693.2:c.*115_*122delinsTTTTTCAG (POLG)	NP_002684.1:n.*115_*122delinsTTTTTCAG
NM_018193.2:c.*170_*177delinsCTGAAAAA (FANCI)	NP_060663.2:n.*170_*177delinsCTGAAAAA
XM_011521756.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520058.1:n.*170_*177delinsCTGAAAAA
XM_011521757.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520059.1:n.*170_*177delinsCTGAAAAA
XM_011521758.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520060.1:n.*170_*177delinsCTGAAAAA
XM_011521759.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520061.1:n.*170_*177delinsCTGAAAAA
XM_011521760.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520062.1:n.*170_*177delinsCTGAAAAA
XM_011521761.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520063.1:n.*170_*177delinsCTGAAAAA
XM_011521762.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520064.1:n.*170_*177delinsCTGAAAAA
XM_011521763.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520065.1:n.*170_*177delinsCTGAAAAA
XM_011521764.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520066.1:n.*170_*177delinsCTGAAAAA
XM_011521765.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520067.1:n.*170_*177delinsCTGAAAAA
XM_011521766.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520068.1:n.*170_*177delinsCTGAAAAA
XM_011521767.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520069.1:n.*170_*177delinsCTGAAAAA
XM_011521769.1:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520071.1:n.*170_*177delinsCTGAAAAA
XM_011521756.2:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520058.1:n.*170_*177delinsCTGAAAAA
XM_011521757.2:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520059.1:n.*170_*177delinsCTGAAAAA
XM_011521764.2:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520066.1:n.*170_*177delinsCTGAAAAA
XM_011521767.2:c.*170_*177delinsCTGAAAAA (FANCI)	XP_011520069.1:n.*170_*177delinsCTGAAAAA
NM_001113378.2:c.*170_*177delinsCTGAAAAA (FANCI) MANE Select	NP_001106849.1:n.*170_*177delinsCTGAAAAA
NM_001126131.2:c.*115_*122delinsTTTTTCAG (POLG)	NP_001119603.1:n.*115_*122delinsTTTTTCAG
NM_001376910.1:c.*170_*177delinsCTGAAAAA (FANCI)	NP_001363839.1:n.*170_*177delinsCTGAAAAA
NM_001376911.1:c.*170_*177delinsCTGAAAAA (FANCI)	NP_001363840.1:n.*170_*177delinsCTGAAAAA
NM_018193.3:c.*170_*177delinsCTGAAAAA (FANCI)	NP_060663.2:n.*170_*177delinsCTGAAAAA
NM_002693.3:c.*115_*122delinsTTTTTCAG (POLG) MANE Select	NP_002684.1:n.*115_*122delinsTTTTTCAG