Canonical Allele Identifier: CA1139664132

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 929719
• ClinVar RCV Id: RCV001194989
• dbSNP Id: rs2055264556

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316397_89317131del , CM000677.2:g.89316397_89317131del	GRCh38
NC_000015.9:g.89859628_89860362del , CM000677.1:g.89859628_89860362del	GRCh37
NC_000015.8:g.87660632_87661366del	NCBI36
NG_008218.1:g.22665_23399del
NG_011736.1:g.77435_78169del , LRG_500:g.77435_78169del
NG_008218.2:g.22665_23399del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3643+245_*354del (POLG)
ENST00000268124.11:c.3643+245_*354del (POLG)
ENST00000310775.12:c.3925_*672del (FANCI) MANE Select	ENSP00000310842.8:n.[c.3925_*672del;Gly13...
ENST00000530292.3:c.3343+245_3774del (POLG)
ENST00000635986.2:c.*713+245_*1144del (POLG)
ENST00000637238.1:c.2551+245_2982del (POLG)
ENST00000637264.1:c.2655+245_3086del (POLG)
ENST00000666746.1:c.3220+245_3651del (POLG)
ENST00000672071.1:n.4845+245_5276del (POLG)
ENST00000672695.1:n.1422+245_1853del (POLG)
ENST00000672923.2:n.3643+245_4074del (POLG)
ENST00000268124.9:c.3643+245_*354del (POLG)
ENST00000300027.12:c.3745_*672del (FANCI)	ENSP00000300027.8:n.[c.3745_*672del;Gly12...
ENST00000442287.6:c.3643+245_*354del (POLG)
ENST00000530292.2:c.826+245_1257del (POLG)
ENST00000631044.2:c.*3067+245_*3498del (POLG)
NM_001113378.1:c.3925_*672del , LRG_500t1:c.3925_*672del (FANCI)	NP_001106849.1:n.[c.3925_*672del;Gly1309=...
NM_001126131.1:c.3643+245_*354del (POLG)
NM_002693.2:c.3643+245_*354del (POLG)
NM_018193.2:c.3745_*672del (FANCI)	NP_060663.2:n.[c.3745_*672del;Gly1249=]
XM_011521756.1:c.3925_*672del (FANCI)	XP_011520058.1:n.[c.3925_*672del;Gly1309=...
XM_011521757.1:c.3925_*672del (FANCI)	XP_011520059.1:n.[c.3925_*672del;Gly1309=...
XM_011521758.1:c.3925_*672del (FANCI)	XP_011520060.1:n.[c.3925_*672del;Gly1309=...
XM_011521759.1:c.3925_*672del (FANCI)	XP_011520061.1:n.[c.3925_*672del;Gly1309=...
XM_011521760.1:c.3925_*672del (FANCI)	XP_011520062.1:n.[c.3925_*672del;Gly1309=...
XM_011521761.1:c.3925_*672del (FANCI)	XP_011520063.1:n.[c.3925_*672del;Gly1309=...
XM_011521762.1:c.3925_*672del (FANCI)	XP_011520064.1:n.[c.3925_*672del;Gly1309=...
XM_011521763.1:c.3883_*672del (FANCI)	XP_011520065.1:n.[c.3883_*672del;Gly1295=...
XM_011521764.1:c.3745_*672del (FANCI)	XP_011520066.1:n.[c.3745_*672del;Gly1249=...
XM_011521765.1:c.3646_*672del (FANCI)	XP_011520067.1:n.[c.3646_*672del;Gly1216=...
XM_011521766.1:c.3646_*672del (FANCI)	XP_011520068.1:n.[c.3646_*672del;Gly1216=...
XM_011521767.1:c.3646_*672del (FANCI)	XP_011520069.1:n.[c.3646_*672del;Gly1216=...
XM_011521769.1:c.3580_*672del (FANCI)	XP_011520071.1:n.[c.3580_*672del;Gly1194=...
XM_011521756.2:c.3925_*672del (FANCI)	XP_011520058.1:n.[c.3925_*672del;Gly1309=...
XM_011521757.2:c.3925_*672del (FANCI)	XP_011520059.1:n.[c.3925_*672del;Gly1309=...
XM_011521764.2:c.3745_*672del (FANCI)	XP_011520066.1:n.[c.3745_*672del;Gly1249=...
XM_011521767.2:c.3646_*672del (FANCI)	XP_011520069.1:n.[c.3646_*672del;Gly1216=...
NM_001113378.2:c.3925_*672del (FANCI) MANE Select	NP_001106849.1:n.[c.3925_*672del;Gly1309=...
NM_001126131.2:c.3643+245_*354del (POLG)
NM_001376910.1:c.3646_*672del (FANCI)	NP_001363839.1:n.[c.3646_*672del;Gly1216=...
NM_001376911.1:c.3925_*672del (FANCI)	NP_001363840.1:n.[c.3925_*672del;Gly1309=...
NM_018193.3:c.3745_*672del (FANCI)	NP_060663.2:n.[c.3745_*672del;Gly1249Serf...
NM_002693.3:c.3643+245_*354del (POLG)