Canonical Allele Identifier: CA2573151241

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 1350581
• ClinVar RCV Id: RCV002051358

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316387_89316407delinsGATGCAGTGCCCTAGAAGGGG , CM000677.2:g.89316387_89316407delinsGATGCAGTGCCCTAGAAGGGG	GRCh38
NC_000015.9:g.89859618_89859638delinsGATGCAGTGCCCTAGAAGGGG , CM000677.1:g.89859618_89859638delinsGATGCAGTGCCCTAGAAGGGG	GRCh37
NC_000015.8:g.87660622_87660642delinsGATGCAGTGCCCTAGAAGGGG	NCBI36
NG_008218.1:g.23389_23409delinsCCCCTTCTAGGGCACTGCATC
NG_011736.1:g.77425_77445delinsGATGCAGTGCCCTAGAAGGGG , LRG_500:g.77425_77445delinsGATGCAGTGCCCTAGAAGGGG
NG_008218.2:g.23389_23409delinsCCCCTTCTAGGGCACTGCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000516154.1:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
ENST00000696717.1:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000696718.1:c.3388-10_3398delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000696719.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000696721.1:n.5510-10_5520delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000268124.11:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG) MANE Select	ENSP00000268124.5:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
ENST00000310775.12:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000530292.3:c.3764_3784delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000432885.2:n.3764_3784delinsCCCCTTCTAGGGCACTGCATC
ENST00000635831.1:c.73+299_73+319delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000635986.2:c.*1134_*1154delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000490653.2:n.*1134_*1154delinsCCCCTTCTAGGGCACTGCATC
ENST00000637238.1:c.2972_2992delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000490756.1:n.2972_2992delinsCCCCTTCTAGGGCACTGCATC
ENST00000637264.1:c.3076_3096delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000666746.1:c.3641_3661delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000672071.1:n.5266_5286delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000672695.1:n.1843_1863delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000672923.2:n.4064_4084delinsCCCCTTCTAGGGCACTGCATC (POLG)
ENST00000674831.1:c.4057-10_4067delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000675352.1:n.3130-10_3140delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000676003.1:c.3883-10_3893delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000676110.1:n.3506-10_3516delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000268124.9:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000268124.5:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
ENST00000300027.12:c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000310775.11:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000442287.6:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000399851.2:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
ENST00000447611.6:c.*269-10_*279delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000530292.2:c.1247_1267delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000432885.1:n.1247_1267delinsCCCCTTCTAGGGCACTGCATC
ENST00000561894.1:c.3221-10_3231delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000566615.1:n.508-10_518delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000566895.5:n.3932-10_3942delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
ENST00000631044.2:c.*3488_*3508delinsCCCCTTCTAGGGCACTGCATC (POLG)	ENSP00000486730.1:n.*3488_*3508delinsCCCCTTCTAGGGCACTGCATC
NM_001113378.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG , LRG_500t1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_001126131.1:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	NP_001119603.1:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
NM_002693.2:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	NP_002684.1:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
NM_018193.2:c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521756.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521757.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521758.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521759.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521760.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521761.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521762.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521763.1:c.3883-10_3893delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521764.1:c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521765.1:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521766.1:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521767.1:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521769.1:c.3580-10_3590delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521756.2:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521757.2:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521764.2:c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
XM_011521767.2:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_001113378.2:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_001126131.2:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG)	NP_001119603.1:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC
NM_001376910.1:c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_001376911.1:c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_018193.3:c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG (FANCI)
NM_002693.3:c.*344_*364delinsCCCCTTCTAGGGCACTGCATC (POLG) MANE Select	NP_002684.1:n.*344_*364delinsCCCCTTCTAGGGCACTGCATC