Canonical Allele Identifier: CA2739269723

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 2803204
• ClinVar RCV Id: RCV003627710

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316836_89316867dup , CM000677.2:g.89316836_89316867dup	GRCh38
NC_000015.9:g.89860067_89860098dup , CM000677.1:g.89860067_89860098dup	GRCh37
NC_000015.8:g.87661071_87661102dup	NCBI36
NG_008218.1:g.22933_22964dup
NG_011736.1:g.77874_77905dup , LRG_500:g.77874_77905dup
NG_008218.2:g.22933_22964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-36_3644-5dup (POLG)	ENSP00000516154.1:n.3644-36_3644-5dup
ENST00000696717.1:c.*377_*408dup (FANCI)	ENSP00000512830.1:n.*377_*408dup
ENST00000696718.1:c.*377_*408dup (FANCI)	ENSP00000512831.1:n.*377_*408dup
ENST00000696719.1:c.*377_*408dup (FANCI)	ENSP00000512832.1:n.*377_*408dup
ENST00000268124.11:c.3644-36_3644-5dup (POLG) MANE Select	ENSP00000268124.5:n.3644-36_3644-5dup
ENST00000310775.12:c.*377_*408dup (FANCI) MANE Select	ENSP00000310842.8:n.*377_*408dup
ENST00000530292.3:c.3344-36_3344-5dup (POLG)	ENSP00000432885.2:n.3344-36_3344-5dup
ENST00000635986.2:c.*714-36_*714-5dup (POLG)	ENSP00000490653.2:n.*714-36_*714-5dup
ENST00000636774.1:c.*2248-36_*2248-5dup (POLG)	ENSP00000489799.1:n.*2248-36_*2248-5dup
ENST00000637238.1:c.2552-36_2552-5dup (POLG)	ENSP00000490756.1:n.2552-36_2552-5dup
ENST00000637264.1:c.2656-36_2656-5dup (POLG)
ENST00000666746.1:c.3221-36_3221-5dup (POLG)
ENST00000672071.1:n.4846-36_4846-5dup (POLG)
ENST00000672695.1:n.1423-36_1423-5dup (POLG)
ENST00000672923.2:n.3644-36_3644-5dup (POLG)
ENST00000675352.1:n.3569_3600dup (FANCI)
ENST00000676110.1:n.3945_3976dup (FANCI)
ENST00000268124.9:c.3644-36_3644-5dup (POLG)	ENSP00000268124.5:n.3644-36_3644-5dup
ENST00000300027.12:c.*377_*408dup (FANCI)	ENSP00000300027.8:n.*377_*408dup
ENST00000310775.11:c.*377_*408dup (FANCI)	ENSP00000310842.7:n.*377_*408dup
ENST00000442287.6:c.3644-36_3644-5dup (POLG)	ENSP00000399851.2:n.3644-36_3644-5dup
ENST00000526671.1:n.454-36_454-5dup (POLG)
ENST00000530292.2:c.827-36_827-5dup (POLG)	ENSP00000432885.1:n.827-36_827-5dup
ENST00000566895.5:n.4371_4402dup (FANCI)
ENST00000631044.2:c.*3068-36_*3068-5dup (POLG)	ENSP00000486730.1:n.*3068-36_*3068-5dup
NM_001113378.1:c.*377_*408dup , LRG_500t1:c.*377_*408dup (FANCI)	NP_001106849.1:n.*377_*408dup
NM_001126131.1:c.3644-36_3644-5dup (POLG)	NP_001119603.1:n.3644-36_3644-5dup
NM_002693.2:c.3644-36_3644-5dup (POLG)	NP_002684.1:n.3644-36_3644-5dup
NM_018193.2:c.*377_*408dup (FANCI)	NP_060663.2:n.*377_*408dup
XM_011521756.1:c.*377_*408dup (FANCI)	XP_011520058.1:n.*377_*408dup
XM_011521757.1:c.*377_*408dup (FANCI)	XP_011520059.1:n.*377_*408dup
XM_011521758.1:c.*377_*408dup (FANCI)	XP_011520060.1:n.*377_*408dup
XM_011521759.1:c.*377_*408dup (FANCI)	XP_011520061.1:n.*377_*408dup
XM_011521760.1:c.*377_*408dup (FANCI)	XP_011520062.1:n.*377_*408dup
XM_011521761.1:c.*377_*408dup (FANCI)	XP_011520063.1:n.*377_*408dup
XM_011521762.1:c.*377_*408dup (FANCI)	XP_011520064.1:n.*377_*408dup
XM_011521763.1:c.*377_*408dup (FANCI)	XP_011520065.1:n.*377_*408dup
XM_011521764.1:c.*377_*408dup (FANCI)	XP_011520066.1:n.*377_*408dup
XM_011521765.1:c.*377_*408dup (FANCI)	XP_011520067.1:n.*377_*408dup
XM_011521766.1:c.*377_*408dup (FANCI)	XP_011520068.1:n.*377_*408dup
XM_011521767.1:c.*377_*408dup (FANCI)	XP_011520069.1:n.*377_*408dup
XM_011521769.1:c.*377_*408dup (FANCI)	XP_011520071.1:n.*377_*408dup
XM_011521756.2:c.*377_*408dup (FANCI)	XP_011520058.1:n.*377_*408dup
XM_011521757.2:c.*377_*408dup (FANCI)	XP_011520059.1:n.*377_*408dup
XM_011521764.2:c.*377_*408dup (FANCI)	XP_011520066.1:n.*377_*408dup
XM_011521767.2:c.*377_*408dup (FANCI)	XP_011520069.1:n.*377_*408dup
NM_001113378.2:c.*377_*408dup (FANCI) MANE Select	NP_001106849.1:n.*377_*408dup
NM_001126131.2:c.3644-36_3644-5dup (POLG)	NP_001119603.1:n.3644-36_3644-5dup
NM_001376910.1:c.*377_*408dup (FANCI)	NP_001363839.1:n.*377_*408dup
NM_001376911.1:c.*377_*408dup (FANCI)	NP_001363840.1:n.*377_*408dup
NM_018193.3:c.*377_*408dup (FANCI)	NP_060663.2:n.*377_*408dup
NM_002693.3:c.3644-36_3644-5dup (POLG) MANE Select	NP_002684.1:n.3644-36_3644-5dup