Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316906_89316908delinsATG , CM000677.2:g.89316906_89316908delinsATG	GRCh38
NC_000015.9:g.89860137_89860139delinsATG , CM000677.1:g.89860137_89860139delinsATG	GRCh37
NC_000015.8:g.87661141_87661143delinsATG	NCBI36
NG_008218.1:g.22888_22890delinsCAT
NG_011736.1:g.77944_77946delinsATG , LRG_500:g.77944_77946delinsATG
NG_008218.2:g.22888_22890delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000516154.1:n.3644-81_3644-79delinsCAT
ENST00000696717.1:c.447_449delinsATG (FANCI)	ENSP00000512830.1:n.447_449delinsATG
ENST00000696718.1:c.447_449delinsATG (FANCI)	ENSP00000512831.1:n.447_449delinsATG
ENST00000696719.1:c.447_449delinsATG (FANCI)	ENSP00000512832.1:n.447_449delinsATG
ENST00000268124.11:c.3644-81_3644-79delinsCAT (POLG) MANE Select	ENSP00000268124.5:n.3644-81_3644-79delinsCAT
ENST00000310775.12:c.447_449delinsATG (FANCI) MANE Select	ENSP00000310842.8:n.447_449delinsATG
ENST00000530292.3:c.3344-81_3344-79delinsCAT (POLG)	ENSP00000432885.2:n.3344-81_3344-79delinsCAT
ENST00000635986.2:c.714-81_714-79delinsCAT (POLG)	ENSP00000490653.2:n.714-81_714-79delinsCAT
ENST00000636774.1:c.2248-81_2248-79delinsCAT (POLG)	ENSP00000489799.1:n.2248-81_2248-79delinsCAT
ENST00000637238.1:c.2552-81_2552-79delinsCAT (POLG)	ENSP00000490756.1:n.2552-81_2552-79delinsCAT
ENST00000637264.1:c.2656-81_2656-79delinsCAT (POLG)
ENST00000666746.1:c.3221-81_3221-79delinsCAT (POLG)
ENST00000672071.1:n.4846-81_4846-79delinsCAT (POLG)
ENST00000672695.1:n.1423-81_1423-79delinsCAT (POLG)
ENST00000672923.2:n.3644-81_3644-79delinsCAT (POLG)
ENST00000675352.1:n.3639_3641delinsATG (FANCI)
ENST00000676110.1:n.4015_4017delinsATG (FANCI)
ENST00000268124.9:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000268124.5:n.3644-81_3644-79delinsCAT
ENST00000300027.12:c.447_449delinsATG (FANCI)	ENSP00000300027.8:n.447_449delinsATG
ENST00000310775.11:c.447_449delinsATG (FANCI)	ENSP00000310842.7:n.447_449delinsATG
ENST00000442287.6:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000399851.2:n.3644-81_3644-79delinsCAT
ENST00000526671.1:n.454-81_454-79delinsCAT (POLG)
ENST00000530292.2:c.827-81_827-79delinsCAT (POLG)	ENSP00000432885.1:n.827-81_827-79delinsCAT
ENST00000566895.5:n.4441_4443delinsATG (FANCI)
ENST00000631044.2:c.3068-81_3068-79delinsCAT (POLG)	ENSP00000486730.1:n.3068-81_3068-79delinsCAT
NM_001113378.1:c.447_449delinsATG , LRG_500t1:c.447_449delinsATG (FANCI)	NP_001106849.1:n.447_449delinsATG
NM_001126131.1:c.3644-81_3644-79delinsCAT (POLG)	NP_001119603.1:n.3644-81_3644-79delinsCAT
NM_002693.2:c.3644-81_3644-79delinsCAT (POLG)	NP_002684.1:n.3644-81_3644-79delinsCAT
NM_018193.2:c.447_449delinsATG (FANCI)	NP_060663.2:n.447_449delinsATG
XM_011521756.1:c.447_449delinsATG (FANCI)	XP_011520058.1:n.447_449delinsATG
XM_011521757.1:c.447_449delinsATG (FANCI)	XP_011520059.1:n.447_449delinsATG
XM_011521758.1:c.447_449delinsATG (FANCI)	XP_011520060.1:n.447_449delinsATG
XM_011521759.1:c.447_449delinsATG (FANCI)	XP_011520061.1:n.447_449delinsATG
XM_011521760.1:c.447_449delinsATG (FANCI)	XP_011520062.1:n.447_449delinsATG
XM_011521761.1:c.447_449delinsATG (FANCI)	XP_011520063.1:n.447_449delinsATG
XM_011521762.1:c.447_449delinsATG (FANCI)	XP_011520064.1:n.447_449delinsATG
XM_011521763.1:c.447_449delinsATG (FANCI)	XP_011520065.1:n.447_449delinsATG
XM_011521764.1:c.447_449delinsATG (FANCI)	XP_011520066.1:n.447_449delinsATG
XM_011521765.1:c.447_449delinsATG (FANCI)	XP_011520067.1:n.447_449delinsATG
XM_011521766.1:c.447_449delinsATG (FANCI)	XP_011520068.1:n.447_449delinsATG
XM_011521767.1:c.447_449delinsATG (FANCI)	XP_011520069.1:n.447_449delinsATG
XM_011521769.1:c.447_449delinsATG (FANCI)	XP_011520071.1:n.447_449delinsATG
XM_011521756.2:c.447_449delinsATG (FANCI)	XP_011520058.1:n.447_449delinsATG
XM_011521757.2:c.447_449delinsATG (FANCI)	XP_011520059.1:n.447_449delinsATG
XM_011521764.2:c.447_449delinsATG (FANCI)	XP_011520066.1:n.447_449delinsATG
XM_011521767.2:c.447_449delinsATG (FANCI)	XP_011520069.1:n.447_449delinsATG
NM_001113378.2:c.447_449delinsATG (FANCI) MANE Select	NP_001106849.1:n.447_449delinsATG
NM_001126131.2:c.3644-81_3644-79delinsCAT (POLG)	NP_001119603.1:n.3644-81_3644-79delinsCAT
NM_001376910.1:c.447_449delinsATG (FANCI)	NP_001363839.1:n.447_449delinsATG
NM_001376911.1:c.447_449delinsATG (FANCI)	NP_001363840.1:n.447_449delinsATG
NM_018193.3:c.447_449delinsATG (FANCI)	NP_060663.2:n.447_449delinsATG
NM_002693.3:c.3644-81_3644-79delinsCAT (POLG) MANE Select	NP_002684.1:n.3644-81_3644-79delinsCAT

HGVS	Amino-acid Change
ENST00000636937.2:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000516154.1:n.3644-81_3644-79delinsCAT
ENST00000696717.1:c.447_449delinsATG (FANCI)	ENSP00000512830.1:n.447_449delinsATG
ENST00000696718.1:c.447_449delinsATG (FANCI)	ENSP00000512831.1:n.447_449delinsATG
ENST00000696719.1:c.447_449delinsATG (FANCI)	ENSP00000512832.1:n.447_449delinsATG
ENST00000268124.11:c.3644-81_3644-79delinsCAT (POLG) MANE Select	ENSP00000268124.5:n.3644-81_3644-79delinsCAT
ENST00000310775.12:c.447_449delinsATG (FANCI) MANE Select	ENSP00000310842.8:n.447_449delinsATG
ENST00000530292.3:c.3344-81_3344-79delinsCAT (POLG)	ENSP00000432885.2:n.3344-81_3344-79delinsCAT
ENST00000635986.2:c.714-81_714-79delinsCAT (POLG)	ENSP00000490653.2:n.714-81_714-79delinsCAT
ENST00000636774.1:c.2248-81_2248-79delinsCAT (POLG)	ENSP00000489799.1:n.2248-81_2248-79delinsCAT
ENST00000637238.1:c.2552-81_2552-79delinsCAT (POLG)	ENSP00000490756.1:n.2552-81_2552-79delinsCAT
ENST00000637264.1:c.2656-81_2656-79delinsCAT (POLG)
ENST00000666746.1:c.3221-81_3221-79delinsCAT (POLG)
ENST00000672071.1:n.4846-81_4846-79delinsCAT (POLG)
ENST00000672695.1:n.1423-81_1423-79delinsCAT (POLG)
ENST00000672923.2:n.3644-81_3644-79delinsCAT (POLG)
ENST00000675352.1:n.3639_3641delinsATG (FANCI)
ENST00000676110.1:n.4015_4017delinsATG (FANCI)
ENST00000268124.9:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000268124.5:n.3644-81_3644-79delinsCAT
ENST00000300027.12:c.447_449delinsATG (FANCI)	ENSP00000300027.8:n.447_449delinsATG
ENST00000310775.11:c.447_449delinsATG (FANCI)	ENSP00000310842.7:n.447_449delinsATG
ENST00000442287.6:c.3644-81_3644-79delinsCAT (POLG)	ENSP00000399851.2:n.3644-81_3644-79delinsCAT
ENST00000526671.1:n.454-81_454-79delinsCAT (POLG)
ENST00000530292.2:c.827-81_827-79delinsCAT (POLG)	ENSP00000432885.1:n.827-81_827-79delinsCAT
ENST00000566895.5:n.4441_4443delinsATG (FANCI)
ENST00000631044.2:c.3068-81_3068-79delinsCAT (POLG)	ENSP00000486730.1:n.3068-81_3068-79delinsCAT
NM_001113378.1:c.447_449delinsATG , LRG_500t1:c.447_449delinsATG (FANCI)	NP_001106849.1:n.447_449delinsATG
NM_001126131.1:c.3644-81_3644-79delinsCAT (POLG)	NP_001119603.1:n.3644-81_3644-79delinsCAT
NM_002693.2:c.3644-81_3644-79delinsCAT (POLG)	NP_002684.1:n.3644-81_3644-79delinsCAT
NM_018193.2:c.447_449delinsATG (FANCI)	NP_060663.2:n.447_449delinsATG
XM_011521756.1:c.447_449delinsATG (FANCI)	XP_011520058.1:n.447_449delinsATG
XM_011521757.1:c.447_449delinsATG (FANCI)	XP_011520059.1:n.447_449delinsATG
XM_011521758.1:c.447_449delinsATG (FANCI)	XP_011520060.1:n.447_449delinsATG
XM_011521759.1:c.447_449delinsATG (FANCI)	XP_011520061.1:n.447_449delinsATG
XM_011521760.1:c.447_449delinsATG (FANCI)	XP_011520062.1:n.447_449delinsATG
XM_011521761.1:c.447_449delinsATG (FANCI)	XP_011520063.1:n.447_449delinsATG
XM_011521762.1:c.447_449delinsATG (FANCI)	XP_011520064.1:n.447_449delinsATG
XM_011521763.1:c.447_449delinsATG (FANCI)	XP_011520065.1:n.447_449delinsATG
XM_011521764.1:c.447_449delinsATG (FANCI)	XP_011520066.1:n.447_449delinsATG
XM_011521765.1:c.447_449delinsATG (FANCI)	XP_011520067.1:n.447_449delinsATG
XM_011521766.1:c.447_449delinsATG (FANCI)	XP_011520068.1:n.447_449delinsATG
XM_011521767.1:c.447_449delinsATG (FANCI)	XP_011520069.1:n.447_449delinsATG
XM_011521769.1:c.447_449delinsATG (FANCI)	XP_011520071.1:n.447_449delinsATG
XM_011521756.2:c.447_449delinsATG (FANCI)	XP_011520058.1:n.447_449delinsATG
XM_011521757.2:c.447_449delinsATG (FANCI)	XP_011520059.1:n.447_449delinsATG
XM_011521764.2:c.447_449delinsATG (FANCI)	XP_011520066.1:n.447_449delinsATG
XM_011521767.2:c.447_449delinsATG (FANCI)	XP_011520069.1:n.447_449delinsATG
NM_001113378.2:c.447_449delinsATG (FANCI) MANE Select	NP_001106849.1:n.447_449delinsATG
NM_001126131.2:c.3644-81_3644-79delinsCAT (POLG)	NP_001119603.1:n.3644-81_3644-79delinsCAT
NM_001376910.1:c.447_449delinsATG (FANCI)	NP_001363839.1:n.447_449delinsATG
NM_001376911.1:c.447_449delinsATG (FANCI)	NP_001363840.1:n.447_449delinsATG
NM_018193.3:c.447_449delinsATG (FANCI)	NP_060663.2:n.447_449delinsATG
NM_002693.3:c.3644-81_3644-79delinsCAT (POLG) MANE Select	NP_002684.1:n.3644-81_3644-79delinsCAT