Canonical Allele Identifier: CA2630254315

Gene: POLG FANCI

Linked Data

• gnomAD v4: 15-89316825-C-CACCTGAAAGATAGTGCAAATTGGTTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316826_89316852dup , CM000677.2:g.89316826_89316852dup	GRCh38
NC_000015.9:g.89860057_89860083dup , CM000677.1:g.89860057_89860083dup	GRCh37
NC_000015.8:g.87661061_87661087dup	NCBI36
NG_008218.1:g.22944_22970dup
NG_011736.1:g.77864_77890dup , LRG_500:g.77864_77890dup
NG_008218.2:g.22944_22970dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-25_3645dup (POLG)
ENST00000696717.1:c.*367_*393dup (FANCI)	ENSP00000512830.1:n.*367_*393dup
ENST00000696718.1:c.*367_*393dup (FANCI)	ENSP00000512831.1:n.*367_*393dup
ENST00000696719.1:c.*367_*393dup (FANCI)	ENSP00000512832.1:n.*367_*393dup
ENST00000268124.11:c.3644-25_3645dup (POLG)
ENST00000310775.12:c.*367_*393dup (FANCI) MANE Select	ENSP00000310842.8:n.*367_*393dup
ENST00000530292.3:c.3344-25_3345dup (POLG)
ENST00000635986.2:c.*714-25_*715dup (POLG)
ENST00000636774.1:c.*2248-25_*2249dup (POLG)
ENST00000637238.1:c.2552-25_2553dup (POLG)
ENST00000637264.1:c.2656-25_2657dup (POLG)
ENST00000666746.1:c.3221-25_3222dup (POLG)
ENST00000672071.1:n.4846-25_4847dup (POLG)
ENST00000672695.1:n.1423-25_1424dup (POLG)
ENST00000672923.2:n.3644-25_3645dup (POLG)
ENST00000675352.1:n.3559_3585dup (FANCI)
ENST00000676110.1:n.3935_3961dup (FANCI)
ENST00000268124.9:c.3644-25_3645dup (POLG)
ENST00000300027.12:c.*367_*393dup (FANCI)	ENSP00000300027.8:n.*367_*393dup
ENST00000310775.11:c.*367_*393dup (FANCI)	ENSP00000310842.7:n.*367_*393dup
ENST00000442287.6:c.3644-25_3645dup (POLG)
ENST00000526671.1:n.454-25_455dup (POLG)
ENST00000530292.2:c.827-25_828dup (POLG)
ENST00000566895.5:n.4361_4387dup (FANCI)
ENST00000631044.2:c.*3068-25_*3069dup (POLG)
NM_001113378.1:c.*367_*393dup , LRG_500t1:c.*367_*393dup (FANCI)	NP_001106849.1:n.*367_*393dup
NM_001126131.1:c.3644-25_3645dup (POLG)
NM_002693.2:c.3644-25_3645dup (POLG)
NM_018193.2:c.*367_*393dup (FANCI)	NP_060663.2:n.*367_*393dup
XM_011521756.1:c.*367_*393dup (FANCI)	XP_011520058.1:n.*367_*393dup
XM_011521757.1:c.*367_*393dup (FANCI)	XP_011520059.1:n.*367_*393dup
XM_011521758.1:c.*367_*393dup (FANCI)	XP_011520060.1:n.*367_*393dup
XM_011521759.1:c.*367_*393dup (FANCI)	XP_011520061.1:n.*367_*393dup
XM_011521760.1:c.*367_*393dup (FANCI)	XP_011520062.1:n.*367_*393dup
XM_011521761.1:c.*367_*393dup (FANCI)	XP_011520063.1:n.*367_*393dup
XM_011521762.1:c.*367_*393dup (FANCI)	XP_011520064.1:n.*367_*393dup
XM_011521763.1:c.*367_*393dup (FANCI)	XP_011520065.1:n.*367_*393dup
XM_011521764.1:c.*367_*393dup (FANCI)	XP_011520066.1:n.*367_*393dup
XM_011521765.1:c.*367_*393dup (FANCI)	XP_011520067.1:n.*367_*393dup
XM_011521766.1:c.*367_*393dup (FANCI)	XP_011520068.1:n.*367_*393dup
XM_011521767.1:c.*367_*393dup (FANCI)	XP_011520069.1:n.*367_*393dup
XM_011521769.1:c.*367_*393dup (FANCI)	XP_011520071.1:n.*367_*393dup
XM_011521756.2:c.*367_*393dup (FANCI)	XP_011520058.1:n.*367_*393dup
XM_011521757.2:c.*367_*393dup (FANCI)	XP_011520059.1:n.*367_*393dup
XM_011521764.2:c.*367_*393dup (FANCI)	XP_011520066.1:n.*367_*393dup
XM_011521767.2:c.*367_*393dup (FANCI)	XP_011520069.1:n.*367_*393dup
NM_001113378.2:c.*367_*393dup (FANCI) MANE Select	NP_001106849.1:n.*367_*393dup
NM_001126131.2:c.3644-25_3645dup (POLG)
NM_001376910.1:c.*367_*393dup (FANCI)	NP_001363839.1:n.*367_*393dup
NM_001376911.1:c.*367_*393dup (FANCI)	NP_001363840.1:n.*367_*393dup
NM_018193.3:c.*367_*393dup (FANCI)	NP_060663.2:n.*367_*393dup
NM_002693.3:c.3644-25_3645dup (POLG)