Canonical Allele Identifier: CA1139664133

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 945006
• ClinVar RCV Id: RCV001215530
• dbSNP Id: rs2055280453

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316769_89316770insA , CM000677.2:g.89316769_89316770insA	GRCh38
NC_000015.9:g.89860000_89860001insA , CM000677.1:g.89860000_89860001insA	GRCh37
NC_000015.8:g.87661004_87661005insA	NCBI36
NG_008218.1:g.23026_23027insT
NG_011736.1:g.77807_77808insA , LRG_500:g.77807_77808insA
NG_008218.2:g.23026_23027insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3701_3702insT (POLG)	ENSP00000516154.1:p.Ser1235LysfsTer?
ENST00000696717.1:c.*310_*311insA (FANCI)	ENSP00000512830.1:n.*310_*311insA
ENST00000696718.1:c.*310_*311insA (FANCI)	ENSP00000512831.1:n.*310_*311insA
ENST00000696719.1:c.*310_*311insA (FANCI)	ENSP00000512832.1:n.*310_*311insA
ENST00000268124.11:c.3701_3702insT (POLG) MANE Select	ENSP00000268124.5:p.Ser1235LysfsTer?
ENST00000310775.12:c.*310_*311insA (FANCI) MANE Select	ENSP00000310842.8:n.*310_*311insA
ENST00000530292.3:c.3401_3402insT (POLG)	ENSP00000432885.2:n.3401_3402insT
ENST00000635831.1:c.9_10insT (POLG)
ENST00000635986.2:c.*771_*772insT (POLG)	ENSP00000490653.2:n.*771_*772insT
ENST00000636774.1:c.*2305_*2306insT (POLG)	ENSP00000489799.1:n.*2305_*2306insT
ENST00000637238.1:c.2609_2610insT (POLG)	ENSP00000490756.1:n.2609_2610insT
ENST00000637264.1:c.2713_2714insT (POLG)
ENST00000666746.1:c.3278_3279insT (POLG)
ENST00000672071.1:n.4903_4904insT (POLG)
ENST00000672695.1:n.1480_1481insT (POLG)
ENST00000672923.2:n.3701_3702insT (POLG)
ENST00000675352.1:n.3502_3503insA (FANCI)
ENST00000676003.1:c.*310_*311insA (FANCI)	ENSP00000502254.1:n.*310_*311insA
ENST00000676110.1:n.3878_3879insA (FANCI)
ENST00000268124.9:c.3701_3702insT (POLG)	ENSP00000268124.5:p.Ser1235LysfsTer?
ENST00000300027.12:c.*310_*311insA (FANCI)	ENSP00000300027.8:n.*310_*311insA
ENST00000310775.11:c.*310_*311insA (FANCI)	ENSP00000310842.7:n.*310_*311insA
ENST00000442287.6:c.3701_3702insT (POLG)	ENSP00000399851.2:p.Ser1235LysfsTer?
ENST00000526671.1:n.511_512insT (POLG)
ENST00000530292.2:c.884_885insT (POLG)	ENSP00000432885.1:n.884_885insT
ENST00000566895.5:n.4304_4305insA (FANCI)
ENST00000631044.2:c.*3125_*3126insT (POLG)	ENSP00000486730.1:n.*3125_*3126insT
NM_001113378.1:c.*310_*311insA , LRG_500t1:c.*310_*311insA (FANCI)	NP_001106849.1:n.*310_*311insA
NM_001126131.1:c.3701_3702insT (POLG)	NP_001119603.1:p.Ser1235LysfsTer?
NM_002693.2:c.3701_3702insT (POLG)	NP_002684.1:p.Ser1235LysfsTer?
NM_018193.2:c.*310_*311insA (FANCI)	NP_060663.2:n.*310_*311insA
XM_011521756.1:c.*310_*311insA (FANCI)	XP_011520058.1:n.*310_*311insA
XM_011521757.1:c.*310_*311insA (FANCI)	XP_011520059.1:n.*310_*311insA
XM_011521758.1:c.*310_*311insA (FANCI)	XP_011520060.1:n.*310_*311insA
XM_011521759.1:c.*310_*311insA (FANCI)	XP_011520061.1:n.*310_*311insA
XM_011521760.1:c.*310_*311insA (FANCI)	XP_011520062.1:n.*310_*311insA
XM_011521761.1:c.*310_*311insA (FANCI)	XP_011520063.1:n.*310_*311insA
XM_011521762.1:c.*310_*311insA (FANCI)	XP_011520064.1:n.*310_*311insA
XM_011521763.1:c.*310_*311insA (FANCI)	XP_011520065.1:n.*310_*311insA
XM_011521764.1:c.*310_*311insA (FANCI)	XP_011520066.1:n.*310_*311insA
XM_011521765.1:c.*310_*311insA (FANCI)	XP_011520067.1:n.*310_*311insA
XM_011521766.1:c.*310_*311insA (FANCI)	XP_011520068.1:n.*310_*311insA
XM_011521767.1:c.*310_*311insA (FANCI)	XP_011520069.1:n.*310_*311insA
XM_011521769.1:c.*310_*311insA (FANCI)	XP_011520071.1:n.*310_*311insA
XM_011521756.2:c.*310_*311insA (FANCI)	XP_011520058.1:n.*310_*311insA
XM_011521757.2:c.*310_*311insA (FANCI)	XP_011520059.1:n.*310_*311insA
XM_011521764.2:c.*310_*311insA (FANCI)	XP_011520066.1:n.*310_*311insA
XM_011521767.2:c.*310_*311insA (FANCI)	XP_011520069.1:n.*310_*311insA
NM_001113378.2:c.*310_*311insA (FANCI) MANE Select	NP_001106849.1:n.*310_*311insA
NM_001126131.2:c.3701_3702insT (POLG)	NP_001119603.1:p.Ser1235LysfsTer?
NM_001376910.1:c.*310_*311insA (FANCI)	NP_001363839.1:n.*310_*311insA
NM_001376911.1:c.*310_*311insA (FANCI)	NP_001363840.1:n.*310_*311insA
NM_018193.3:c.*310_*311insA (FANCI)	NP_060663.2:n.*310_*311insA
NM_002693.3:c.3701_3702insT (POLG) MANE Select	NP_002684.1:p.Ser1235LysfsTer?