Canonical Allele Identifier: CA274538144

Gene: POLG FANCI

Linked Data

• dbSNP Id: rs774425381
• gnomAD v2: 15-89859860-CTGAAAAA-C
• gnomAD v3: 15-89316629-CTGAAAAA-C
• gnomAD v4: 15-89316629-CTGAAAAA-C
• MyVariant Identifiers: chr15:g.89859861_89859867del (hg19) ; chr15:g.89316630_89316636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316632_89316638del , CM000677.2:g.89316632_89316638del	GRCh38
NC_000015.9:g.89859863_89859869del , CM000677.1:g.89859863_89859869del	GRCh37
NC_000015.8:g.87660867_87660873del	NCBI36
NG_008218.1:g.23160_23166del
NG_011736.1:g.77670_77676del , LRG_500:g.77670_77676del
NG_008218.2:g.23160_23166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.*115_*121del (POLG)	ENSP00000516154.1:n.*115_*121del
ENST00000696717.1:c.*173_*179del (FANCI)	ENSP00000512830.1:n.*173_*179del
ENST00000696718.1:c.*173_*179del (FANCI)	ENSP00000512831.1:n.*173_*179del
ENST00000696719.1:c.*173_*179del (FANCI)	ENSP00000512832.1:n.*173_*179del
ENST00000268124.11:c.*115_*121del (POLG) MANE Select	ENSP00000268124.5:n.*115_*121del
ENST00000310775.12:c.*173_*179del (FANCI) MANE Select	ENSP00000310842.8:n.*173_*179del
ENST00000530292.3:c.3535_3541del (POLG)	ENSP00000432885.2:n.3535_3541del
ENST00000635831.1:c.73+70_73+76del (POLG)
ENST00000635986.2:c.*905_*911del (POLG)	ENSP00000490653.2:n.*905_*911del
ENST00000637238.1:c.2743_2749del (POLG)	ENSP00000490756.1:n.2743_2749del
ENST00000637264.1:c.2847_2853del (POLG)
ENST00000666746.1:c.3412_3418del (POLG)
ENST00000672071.1:n.5037_5043del (POLG)
ENST00000672695.1:n.1614_1620del (POLG)
ENST00000672923.2:n.3835_3841del (POLG)
ENST00000675352.1:n.3365_3371del (FANCI)
ENST00000676003.1:c.*173_*179del (FANCI)	ENSP00000502254.1:n.*173_*179del
ENST00000676110.1:n.3741_3747del (FANCI)
ENST00000268124.9:c.*115_*121del (POLG)	ENSP00000268124.5:n.*115_*121del
ENST00000300027.12:c.*173_*179del (FANCI)	ENSP00000300027.8:n.*173_*179del
ENST00000310775.11:c.*173_*179del (FANCI)	ENSP00000310842.7:n.*173_*179del
ENST00000442287.6:c.*115_*121del (POLG)	ENSP00000399851.2:n.*115_*121del
ENST00000526671.1:n.645_651del (POLG)
ENST00000530292.2:c.1018_1024del (POLG)	ENSP00000432885.1:n.1018_1024del
ENST00000566895.5:n.4167_4173del (FANCI)
ENST00000631044.2:c.*3259_*3265del (POLG)	ENSP00000486730.1:n.*3259_*3265del
NM_001113378.1:c.*173_*179del , LRG_500t1:c.*173_*179del (FANCI)	NP_001106849.1:n.*173_*179del
NM_001126131.1:c.*115_*121del (POLG)	NP_001119603.1:n.*115_*121del
NM_002693.2:c.*115_*121del (POLG)	NP_002684.1:n.*115_*121del
NM_018193.2:c.*173_*179del (FANCI)	NP_060663.2:n.*173_*179del
XM_011521756.1:c.*173_*179del (FANCI)	XP_011520058.1:n.*173_*179del
XM_011521757.1:c.*173_*179del (FANCI)	XP_011520059.1:n.*173_*179del
XM_011521758.1:c.*173_*179del (FANCI)	XP_011520060.1:n.*173_*179del
XM_011521759.1:c.*173_*179del (FANCI)	XP_011520061.1:n.*173_*179del
XM_011521760.1:c.*173_*179del (FANCI)	XP_011520062.1:n.*173_*179del
XM_011521761.1:c.*173_*179del (FANCI)	XP_011520063.1:n.*173_*179del
XM_011521762.1:c.*173_*179del (FANCI)	XP_011520064.1:n.*173_*179del
XM_011521763.1:c.*173_*179del (FANCI)	XP_011520065.1:n.*173_*179del
XM_011521764.1:c.*173_*179del (FANCI)	XP_011520066.1:n.*173_*179del
XM_011521765.1:c.*173_*179del (FANCI)	XP_011520067.1:n.*173_*179del
XM_011521766.1:c.*173_*179del (FANCI)	XP_011520068.1:n.*173_*179del
XM_011521767.1:c.*173_*179del (FANCI)	XP_011520069.1:n.*173_*179del
XM_011521769.1:c.*173_*179del (FANCI)	XP_011520071.1:n.*173_*179del
XM_011521756.2:c.*173_*179del (FANCI)	XP_011520058.1:n.*173_*179del
XM_011521757.2:c.*173_*179del (FANCI)	XP_011520059.1:n.*173_*179del
XM_011521764.2:c.*173_*179del (FANCI)	XP_011520066.1:n.*173_*179del
XM_011521767.2:c.*173_*179del (FANCI)	XP_011520069.1:n.*173_*179del
NM_001113378.2:c.*173_*179del (FANCI) MANE Select	NP_001106849.1:n.*173_*179del
NM_001126131.2:c.*115_*121del (POLG)	NP_001119603.1:n.*115_*121del
NM_001376910.1:c.*173_*179del (FANCI)	NP_001363839.1:n.*173_*179del
NM_001376911.1:c.*173_*179del (FANCI)	NP_001363840.1:n.*173_*179del
NM_018193.3:c.*173_*179del (FANCI)	NP_060663.2:n.*173_*179del
NM_002693.3:c.*115_*121del (POLG) MANE Select	NP_002684.1:n.*115_*121del