Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316922_89316939del , CM000677.2:g.89316922_89316939del	GRCh38
NC_000015.9:g.89860153_89860170del , CM000677.1:g.89860153_89860170del	GRCh37
NC_000015.8:g.87661157_87661174del	NCBI36
NG_008218.1:g.22857_22874del
NG_011736.1:g.77960_77977del , LRG_500:g.77960_77977del
NG_008218.2:g.22857_22874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-112_3644-95del (POLG)	ENSP00000516154.1:n.3644-112_3644-95del
ENST00000696717.1:c.463_480del (FANCI)	ENSP00000512830.1:n.463_480del
ENST00000696718.1:c.463_480del (FANCI)	ENSP00000512831.1:n.463_480del
ENST00000696719.1:c.463_480del (FANCI)	ENSP00000512832.1:n.463_480del
ENST00000268124.11:c.3644-112_3644-95del (POLG) MANE Select	ENSP00000268124.5:n.3644-112_3644-95del
ENST00000310775.12:c.463_480del (FANCI) MANE Select	ENSP00000310842.8:n.463_480del
ENST00000530292.3:c.3344-112_3344-95del (POLG)	ENSP00000432885.2:n.3344-112_3344-95del
ENST00000635986.2:c.714-112_714-95del (POLG)	ENSP00000490653.2:n.714-112_714-95del
ENST00000636774.1:c.2248-112_2248-95del (POLG)	ENSP00000489799.1:n.2248-112_2248-95del
ENST00000637238.1:c.2552-112_2552-95del (POLG)	ENSP00000490756.1:n.2552-112_2552-95del
ENST00000637264.1:c.2656-112_2656-95del (POLG)
ENST00000666746.1:c.3221-112_3221-95del (POLG)
ENST00000672071.1:n.4846-112_4846-95del (POLG)
ENST00000672695.1:n.1423-112_1423-95del (POLG)
ENST00000672923.2:n.3644-112_3644-95del (POLG)
ENST00000675352.1:n.3655_3672del (FANCI)
ENST00000676110.1:n.4031_4048del (FANCI)
ENST00000268124.9:c.3644-112_3644-95del (POLG)	ENSP00000268124.5:n.3644-112_3644-95del
ENST00000300027.12:c.463_480del (FANCI)	ENSP00000300027.8:n.463_480del
ENST00000310775.11:c.463_480del (FANCI)	ENSP00000310842.7:n.463_480del
ENST00000442287.6:c.3644-112_3644-95del (POLG)	ENSP00000399851.2:n.3644-112_3644-95del
ENST00000526671.1:n.454-112_454-95del (POLG)
ENST00000530292.2:c.827-112_827-95del (POLG)	ENSP00000432885.1:n.827-112_827-95del
ENST00000566895.5:n.4457_4474del (FANCI)
ENST00000631044.2:c.3068-112_3068-95del (POLG)	ENSP00000486730.1:n.3068-112_3068-95del
NM_001113378.1:c.463_480del , LRG_500t1:c.463_480del (FANCI)	NP_001106849.1:n.463_480del
NM_001126131.1:c.3644-112_3644-95del (POLG)	NP_001119603.1:n.3644-112_3644-95del
NM_002693.2:c.3644-112_3644-95del (POLG)	NP_002684.1:n.3644-112_3644-95del
NM_018193.2:c.463_480del (FANCI)	NP_060663.2:n.463_480del
XM_011521756.1:c.463_480del (FANCI)	XP_011520058.1:n.463_480del
XM_011521757.1:c.463_480del (FANCI)	XP_011520059.1:n.463_480del
XM_011521758.1:c.463_480del (FANCI)	XP_011520060.1:n.463_480del
XM_011521759.1:c.463_480del (FANCI)	XP_011520061.1:n.463_480del
XM_011521760.1:c.463_480del (FANCI)	XP_011520062.1:n.463_480del
XM_011521761.1:c.463_480del (FANCI)	XP_011520063.1:n.463_480del
XM_011521762.1:c.463_480del (FANCI)	XP_011520064.1:n.463_480del
XM_011521763.1:c.463_480del (FANCI)	XP_011520065.1:n.463_480del
XM_011521764.1:c.463_480del (FANCI)	XP_011520066.1:n.463_480del
XM_011521765.1:c.463_480del (FANCI)	XP_011520067.1:n.463_480del
XM_011521766.1:c.463_480del (FANCI)	XP_011520068.1:n.463_480del
XM_011521767.1:c.463_480del (FANCI)	XP_011520069.1:n.463_480del
XM_011521769.1:c.463_480del (FANCI)	XP_011520071.1:n.463_480del
XM_011521756.2:c.463_480del (FANCI)	XP_011520058.1:n.463_480del
XM_011521757.2:c.463_480del (FANCI)	XP_011520059.1:n.463_480del
XM_011521764.2:c.463_480del (FANCI)	XP_011520066.1:n.463_480del
XM_011521767.2:c.463_480del (FANCI)	XP_011520069.1:n.463_480del
NM_001113378.2:c.463_480del (FANCI) MANE Select	NP_001106849.1:n.463_480del
NM_001126131.2:c.3644-112_3644-95del (POLG)	NP_001119603.1:n.3644-112_3644-95del
NM_001376910.1:c.463_480del (FANCI)	NP_001363839.1:n.463_480del
NM_001376911.1:c.463_480del (FANCI)	NP_001363840.1:n.463_480del
NM_018193.3:c.463_480del (FANCI)	NP_060663.2:n.463_480del
NM_002693.3:c.3644-112_3644-95del (POLG) MANE Select	NP_002684.1:n.3644-112_3644-95del

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-112_3644-95del (POLG)	ENSP00000516154.1:n.3644-112_3644-95del
ENST00000696717.1:c.463_480del (FANCI)	ENSP00000512830.1:n.463_480del
ENST00000696718.1:c.463_480del (FANCI)	ENSP00000512831.1:n.463_480del
ENST00000696719.1:c.463_480del (FANCI)	ENSP00000512832.1:n.463_480del
ENST00000268124.11:c.3644-112_3644-95del (POLG) MANE Select	ENSP00000268124.5:n.3644-112_3644-95del
ENST00000310775.12:c.463_480del (FANCI) MANE Select	ENSP00000310842.8:n.463_480del
ENST00000530292.3:c.3344-112_3344-95del (POLG)	ENSP00000432885.2:n.3344-112_3344-95del
ENST00000635986.2:c.714-112_714-95del (POLG)	ENSP00000490653.2:n.714-112_714-95del
ENST00000636774.1:c.2248-112_2248-95del (POLG)	ENSP00000489799.1:n.2248-112_2248-95del
ENST00000637238.1:c.2552-112_2552-95del (POLG)	ENSP00000490756.1:n.2552-112_2552-95del
ENST00000637264.1:c.2656-112_2656-95del (POLG)
ENST00000666746.1:c.3221-112_3221-95del (POLG)
ENST00000672071.1:n.4846-112_4846-95del (POLG)
ENST00000672695.1:n.1423-112_1423-95del (POLG)
ENST00000672923.2:n.3644-112_3644-95del (POLG)
ENST00000675352.1:n.3655_3672del (FANCI)
ENST00000676110.1:n.4031_4048del (FANCI)
ENST00000268124.9:c.3644-112_3644-95del (POLG)	ENSP00000268124.5:n.3644-112_3644-95del
ENST00000300027.12:c.463_480del (FANCI)	ENSP00000300027.8:n.463_480del
ENST00000310775.11:c.463_480del (FANCI)	ENSP00000310842.7:n.463_480del
ENST00000442287.6:c.3644-112_3644-95del (POLG)	ENSP00000399851.2:n.3644-112_3644-95del
ENST00000526671.1:n.454-112_454-95del (POLG)
ENST00000530292.2:c.827-112_827-95del (POLG)	ENSP00000432885.1:n.827-112_827-95del
ENST00000566895.5:n.4457_4474del (FANCI)
ENST00000631044.2:c.3068-112_3068-95del (POLG)	ENSP00000486730.1:n.3068-112_3068-95del
NM_001113378.1:c.463_480del , LRG_500t1:c.463_480del (FANCI)	NP_001106849.1:n.463_480del
NM_001126131.1:c.3644-112_3644-95del (POLG)	NP_001119603.1:n.3644-112_3644-95del
NM_002693.2:c.3644-112_3644-95del (POLG)	NP_002684.1:n.3644-112_3644-95del
NM_018193.2:c.463_480del (FANCI)	NP_060663.2:n.463_480del
XM_011521756.1:c.463_480del (FANCI)	XP_011520058.1:n.463_480del
XM_011521757.1:c.463_480del (FANCI)	XP_011520059.1:n.463_480del
XM_011521758.1:c.463_480del (FANCI)	XP_011520060.1:n.463_480del
XM_011521759.1:c.463_480del (FANCI)	XP_011520061.1:n.463_480del
XM_011521760.1:c.463_480del (FANCI)	XP_011520062.1:n.463_480del
XM_011521761.1:c.463_480del (FANCI)	XP_011520063.1:n.463_480del
XM_011521762.1:c.463_480del (FANCI)	XP_011520064.1:n.463_480del
XM_011521763.1:c.463_480del (FANCI)	XP_011520065.1:n.463_480del
XM_011521764.1:c.463_480del (FANCI)	XP_011520066.1:n.463_480del
XM_011521765.1:c.463_480del (FANCI)	XP_011520067.1:n.463_480del
XM_011521766.1:c.463_480del (FANCI)	XP_011520068.1:n.463_480del
XM_011521767.1:c.463_480del (FANCI)	XP_011520069.1:n.463_480del
XM_011521769.1:c.463_480del (FANCI)	XP_011520071.1:n.463_480del
XM_011521756.2:c.463_480del (FANCI)	XP_011520058.1:n.463_480del
XM_011521757.2:c.463_480del (FANCI)	XP_011520059.1:n.463_480del
XM_011521764.2:c.463_480del (FANCI)	XP_011520066.1:n.463_480del
XM_011521767.2:c.463_480del (FANCI)	XP_011520069.1:n.463_480del
NM_001113378.2:c.463_480del (FANCI) MANE Select	NP_001106849.1:n.463_480del
NM_001126131.2:c.3644-112_3644-95del (POLG)	NP_001119603.1:n.3644-112_3644-95del
NM_001376910.1:c.463_480del (FANCI)	NP_001363839.1:n.463_480del
NM_001376911.1:c.463_480del (FANCI)	NP_001363840.1:n.463_480del
NM_018193.3:c.463_480del (FANCI)	NP_060663.2:n.463_480del
NM_002693.3:c.3644-112_3644-95del (POLG) MANE Select	NP_002684.1:n.3644-112_3644-95del