Canonical Allele Identifier: CA716878453

Gene: POLG FANCI

Linked Data

• dbSNP Id: rs1208713333
• gnomAD v3: 15-89316398-G-GC
• gnomAD v4: 15-89316398-G-GC
• MyVariant Identifiers: chr15:g.89859629_89859630insC (hg19) ; chr15:g.89316398_89316399insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316399dup , CM000677.2:g.89316399dup	GRCh38
NC_000015.9:g.89859630dup , CM000677.1:g.89859630dup	GRCh37
NC_000015.8:g.87660634dup	NCBI36
NG_008218.1:g.23397dup
NG_011736.1:g.77437dup , LRG_500:g.77437dup
NG_008218.2:g.23397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*352dup (POLG)	ENSP00000516154.1:n.*352dup
ENST00000696717.1:c.3648dup (FANCI)	ENSP00000512830.1:p.Thr1217HisfsTer28
ENST00000696718.1:c.3390dup (FANCI)	ENSP00000512831.1:p.Thr1131HisfsTer28
ENST00000696719.1:c.3927dup (FANCI)	ENSP00000512832.1:p.Thr1310HisfsTer28
ENST00000696721.1:n.5512dup (FANCI)
ENST00000268124.11:c.*352dup (POLG) MANE Select	ENSP00000268124.5:n.*352dup
ENST00000310775.12:c.3927dup (FANCI) MANE Select	ENSP00000310842.8:p.Thr1310HisfsTer28
ENST00000530292.3:c.3772dup (POLG)	ENSP00000432885.2:n.3772dup
ENST00000635831.1:c.73+307dup (POLG)
ENST00000635986.2:c.*1142dup (POLG)	ENSP00000490653.2:n.*1142dup
ENST00000637238.1:c.2980dup (POLG)	ENSP00000490756.1:n.2980dup
ENST00000637264.1:c.3084dup (POLG)
ENST00000666746.1:c.3649dup (POLG)
ENST00000672071.1:n.5274dup (POLG)
ENST00000672695.1:n.1851dup (POLG)
ENST00000672923.2:n.4072dup (POLG)
ENST00000674831.1:c.4059dup (FANCI)	ENSP00000502474.1:p.Thr1354HisfsTer?
ENST00000675352.1:n.3132dup (FANCI)
ENST00000676003.1:c.3885dup (FANCI)	ENSP00000502254.1:p.Thr1296HisfsTer28
ENST00000676110.1:n.3508dup (FANCI)
ENST00000268124.9:c.*352dup (POLG)	ENSP00000268124.5:n.*352dup
ENST00000300027.12:c.3747dup (FANCI)	ENSP00000300027.8:p.Thr1250HisfsTer28
ENST00000310775.11:c.3927dup (FANCI)	ENSP00000310842.7:p.Thr1310HisfsTer28
ENST00000442287.6:c.*352dup (POLG)	ENSP00000399851.2:n.*352dup
ENST00000447611.6:c.*271dup (FANCI)	ENSP00000413249.2:n.*271dup
ENST00000530292.2:c.1255dup (POLG)	ENSP00000432885.1:n.1255dup
ENST00000561894.1:c.3223dup (FANCI)
ENST00000566615.1:n.510dup (FANCI)
ENST00000566895.5:n.3934dup (FANCI)
ENST00000631044.2:c.*3496dup (POLG)	ENSP00000486730.1:n.*3496dup
NM_001113378.1:c.3927dup , LRG_500t1:c.3927dup (FANCI)	NP_001106849.1:p.Thr1310HisfsTer28
NM_001126131.1:c.*352dup (POLG)	NP_001119603.1:n.*352dup
NM_002693.2:c.*352dup (POLG)	NP_002684.1:n.*352dup
NM_018193.2:c.3747dup (FANCI)	NP_060663.2:p.Thr1250HisfsTer28
XM_011521756.1:c.3927dup (FANCI)	XP_011520058.1:p.Thr1310HisfsTer28
XM_011521757.1:c.3927dup (FANCI)	XP_011520059.1:p.Thr1310HisfsTer28
XM_011521758.1:c.3927dup (FANCI)	XP_011520060.1:p.Thr1310HisfsTer28
XM_011521759.1:c.3927dup (FANCI)	XP_011520061.1:p.Thr1310HisfsTer28
XM_011521760.1:c.3927dup (FANCI)	XP_011520062.1:p.Thr1310HisfsTer28
XM_011521761.1:c.3927dup (FANCI)	XP_011520063.1:p.Thr1310HisfsTer28
XM_011521762.1:c.3927dup (FANCI)	XP_011520064.1:p.Thr1310HisfsTer28
XM_011521763.1:c.3885dup (FANCI)	XP_011520065.1:p.Thr1296HisfsTer28
XM_011521764.1:c.3747dup (FANCI)	XP_011520066.1:p.Thr1250HisfsTer28
XM_011521765.1:c.3648dup (FANCI)	XP_011520067.1:p.Thr1217HisfsTer28
XM_011521766.1:c.3648dup (FANCI)	XP_011520068.1:p.Thr1217HisfsTer28
XM_011521767.1:c.3648dup (FANCI)	XP_011520069.1:p.Thr1217HisfsTer28
XM_011521769.1:c.3582dup (FANCI)	XP_011520071.1:p.Thr1195HisfsTer28
XM_011521756.2:c.3927dup (FANCI)	XP_011520058.1:p.Thr1310HisfsTer28
XM_011521757.2:c.3927dup (FANCI)	XP_011520059.1:p.Thr1310HisfsTer28
XM_011521764.2:c.3747dup (FANCI)	XP_011520066.1:p.Thr1250HisfsTer28
XM_011521767.2:c.3648dup (FANCI)	XP_011520069.1:p.Thr1217HisfsTer28
NM_001113378.2:c.3927dup (FANCI) MANE Select	NP_001106849.1:p.Thr1310HisfsTer28
NM_001126131.2:c.*352dup (POLG)	NP_001119603.1:n.*352dup
NM_001376910.1:c.3648dup (FANCI)	NP_001363839.1:p.Thr1217HisfsTer28
NM_001376911.1:c.3927dup (FANCI)	NP_001363840.1:p.Thr1310HisfsTer28
NM_018193.3:c.3747dup (FANCI)	NP_060663.2:p.Thr1250HisfsTer28
NM_002693.3:c.*352dup (POLG) MANE Select	NP_002684.1:n.*352dup