Canonical Allele Identifier: CA2805167478

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89316934_89316935insAC , CM000677.2:g.89316934_89316935insAC GRCh38
NC_000015.9:g.89860165_89860166insAC , CM000677.1:g.89860165_89860166insAC GRCh37
NC_000015.8:g.87661169_87661170insAC NCBI36
NG_008218.1:g.22861_22862insGT
NG_011736.1:g.77972_77973insAC , LRG_500:g.77972_77973insAC
NG_008218.2:g.22861_22862insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3644-108_3644-107insGT (POLG) ENSP00000516154.1:n.3644-108_3644-107insGT
ENST00000696717.1:c.*475_*476insAC (FANCI) ENSP00000512830.1:n.*475_*476insAC
ENST00000696718.1:c.*475_*476insAC (FANCI) ENSP00000512831.1:n.*475_*476insAC
ENST00000696719.1:c.*475_*476insAC (FANCI) ENSP00000512832.1:n.*475_*476insAC
ENST00000268124.11:c.3644-108_3644-107insGT (POLG) MANE Select ENSP00000268124.5:n.3644-108_3644-107insGT
ENST00000310775.12:c.*475_*476insAC (FANCI) MANE Select ENSP00000310842.8:n.*475_*476insAC
ENST00000530292.3:c.3344-108_3344-107insGT (POLG) ENSP00000432885.2:n.3344-108_3344-107insGT
ENST00000635986.2:c.*714-108_*714-107insGT (POLG) ENSP00000490653.2:n.*714-108_*714-107insGT
ENST00000636774.1:c.*2248-108_*2248-107insGT (POLG) ENSP00000489799.1:n.*2248-108_*2248-107insGT
ENST00000637238.1:c.2552-108_2552-107insGT (POLG) ENSP00000490756.1:n.2552-108_2552-107insGT
ENST00000637264.1:c.2656-108_2656-107insGT (POLG)
ENST00000666746.1:c.3221-108_3221-107insGT (POLG)
ENST00000672071.1:n.4846-108_4846-107insGT (POLG)
ENST00000672695.1:n.1423-108_1423-107insGT (POLG)
ENST00000672923.2:n.3644-108_3644-107insGT (POLG)
ENST00000675352.1:n.3667_3668insAC (FANCI)
ENST00000676110.1:n.4043_4044insAC (FANCI)
ENST00000268124.9:c.3644-108_3644-107insGT (POLG) ENSP00000268124.5:n.3644-108_3644-107insGT
ENST00000300027.12:c.*475_*476insAC (FANCI) ENSP00000300027.8:n.*475_*476insAC
ENST00000310775.11:c.*475_*476insAC (FANCI) ENSP00000310842.7:n.*475_*476insAC
ENST00000442287.6:c.3644-108_3644-107insGT (POLG) ENSP00000399851.2:n.3644-108_3644-107insGT
ENST00000526671.1:n.454-108_454-107insGT (POLG)
ENST00000530292.2:c.827-108_827-107insGT (POLG) ENSP00000432885.1:n.827-108_827-107insGT
ENST00000566895.5:n.4469_4470insAC (FANCI)
ENST00000631044.2:c.*3068-108_*3068-107insGT (POLG) ENSP00000486730.1:n.*3068-108_*3068-107insGT
NM_001113378.1:c.*475_*476insAC , LRG_500t1:c.*475_*476insAC (FANCI) NP_001106849.1:n.*475_*476insAC
NM_001126131.1:c.3644-108_3644-107insGT (POLG) NP_001119603.1:n.3644-108_3644-107insGT
NM_002693.2:c.3644-108_3644-107insGT (POLG) NP_002684.1:n.3644-108_3644-107insGT
NM_018193.2:c.*475_*476insAC (FANCI) NP_060663.2:n.*475_*476insAC
XM_011521756.1:c.*475_*476insAC (FANCI) XP_011520058.1:n.*475_*476insAC
XM_011521757.1:c.*475_*476insAC (FANCI) XP_011520059.1:n.*475_*476insAC
XM_011521758.1:c.*475_*476insAC (FANCI) XP_011520060.1:n.*475_*476insAC
XM_011521759.1:c.*475_*476insAC (FANCI) XP_011520061.1:n.*475_*476insAC
XM_011521760.1:c.*475_*476insAC (FANCI) XP_011520062.1:n.*475_*476insAC
XM_011521761.1:c.*475_*476insAC (FANCI) XP_011520063.1:n.*475_*476insAC
XM_011521762.1:c.*475_*476insAC (FANCI) XP_011520064.1:n.*475_*476insAC
XM_011521763.1:c.*475_*476insAC (FANCI) XP_011520065.1:n.*475_*476insAC
XM_011521764.1:c.*475_*476insAC (FANCI) XP_011520066.1:n.*475_*476insAC
XM_011521765.1:c.*475_*476insAC (FANCI) XP_011520067.1:n.*475_*476insAC
XM_011521766.1:c.*475_*476insAC (FANCI) XP_011520068.1:n.*475_*476insAC
XM_011521767.1:c.*475_*476insAC (FANCI) XP_011520069.1:n.*475_*476insAC
XM_011521769.1:c.*475_*476insAC (FANCI) XP_011520071.1:n.*475_*476insAC
XM_011521756.2:c.*475_*476insAC (FANCI) XP_011520058.1:n.*475_*476insAC
XM_011521757.2:c.*475_*476insAC (FANCI) XP_011520059.1:n.*475_*476insAC
XM_011521764.2:c.*475_*476insAC (FANCI) XP_011520066.1:n.*475_*476insAC
XM_011521767.2:c.*475_*476insAC (FANCI) XP_011520069.1:n.*475_*476insAC
NM_001113378.2:c.*475_*476insAC (FANCI) MANE Select NP_001106849.1:n.*475_*476insAC
NM_001126131.2:c.3644-108_3644-107insGT (POLG) NP_001119603.1:n.3644-108_3644-107insGT
NM_001376910.1:c.*475_*476insAC (FANCI) NP_001363839.1:n.*475_*476insAC
NM_001376911.1:c.*475_*476insAC (FANCI) NP_001363840.1:n.*475_*476insAC
NM_018193.3:c.*475_*476insAC (FANCI) NP_060663.2:n.*475_*476insAC
NM_002693.3:c.3644-108_3644-107insGT (POLG) MANE Select NP_002684.1:n.3644-108_3644-107insGT