Canonical Allele Identifier: CA2999039700

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89315219_89315220insCCC , CM000677.2:g.89315219_89315220insCCC GRCh38
NC_000015.9:g.89858450_89858451insCCC , CM000677.1:g.89858450_89858451insCCC GRCh37
NC_000015.8:g.87659454_87659455insCCC NCBI36
NG_008218.1:g.24577_24578insGGG
NG_011736.1:g.76257_76258insCCC , LRG_500:g.76257_76258insCCC
NG_008218.2:g.24577_24578insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696717.1:c.3538-63_3538-62insCCC (FANCI) ENSP00000512830.1:n.3538-63_3538-62insCCC
ENST00000696718.1:c.3280-63_3280-62insCCC (FANCI) ENSP00000512831.1:n.3280-63_3280-62insCCC
ENST00000696719.1:c.3817-63_3817-62insCCC (FANCI) ENSP00000512832.1:n.3817-63_3817-62insCCC
ENST00000696721.1:n.5402-63_5402-62insCCC (FANCI)
ENST00000310775.12:c.3817-63_3817-62insCCC (FANCI) MANE Select ENSP00000310842.8:n.3817-63_3817-62insCCC
ENST00000635831.1:c.73+1487_73+1488insGGG (POLG)
ENST00000674831.1:c.3949-63_3949-62insCCC (FANCI) ENSP00000502474.1:n.3949-63_3949-62insCCC
ENST00000675352.1:n.3022-63_3022-62insCCC (FANCI)
ENST00000676003.1:c.3775-63_3775-62insCCC (FANCI) ENSP00000502254.1:n.3775-63_3775-62insCCC
ENST00000676110.1:n.3398-63_3398-62insCCC (FANCI)
ENST00000300027.12:c.3637-63_3637-62insCCC (FANCI) ENSP00000300027.8:n.3637-63_3637-62insCCC
ENST00000310775.11:c.3817-63_3817-62insCCC (FANCI) ENSP00000310842.7:n.3817-63_3817-62insCCC
ENST00000447611.6:c.*161-63_*161-62insCCC (FANCI) ENSP00000413249.2:n.*161-63_*161-62insCCC
ENST00000561894.1:c.3113-63_3113-62insCCC (FANCI)
ENST00000566615.1:n.400-63_400-62insCCC (FANCI)
ENST00000566895.5:n.3824-63_3824-62insCCC (FANCI)
NM_001113378.1:c.3817-63_3817-62insCCC , LRG_500t1:c.3817-63_3817-62insCCC (FANCI) NP_001106849.1:n.3817-63_3817-62insCCC
NM_018193.2:c.3637-63_3637-62insCCC (FANCI) NP_060663.2:n.3637-63_3637-62insCCC
XM_011521756.1:c.3817-63_3817-62insCCC (FANCI) XP_011520058.1:n.3817-63_3817-62insCCC
XM_011521757.1:c.3817-63_3817-62insCCC (FANCI) XP_011520059.1:n.3817-63_3817-62insCCC
XM_011521758.1:c.3817-63_3817-62insCCC (FANCI) XP_011520060.1:n.3817-63_3817-62insCCC
XM_011521759.1:c.3817-63_3817-62insCCC (FANCI) XP_011520061.1:n.3817-63_3817-62insCCC
XM_011521760.1:c.3817-63_3817-62insCCC (FANCI) XP_011520062.1:n.3817-63_3817-62insCCC
XM_011521761.1:c.3817-63_3817-62insCCC (FANCI) XP_011520063.1:n.3817-63_3817-62insCCC
XM_011521762.1:c.3817-63_3817-62insCCC (FANCI) XP_011520064.1:n.3817-63_3817-62insCCC
XM_011521763.1:c.3775-63_3775-62insCCC (FANCI) XP_011520065.1:n.3775-63_3775-62insCCC
XM_011521764.1:c.3637-63_3637-62insCCC (FANCI) XP_011520066.1:n.3637-63_3637-62insCCC
XM_011521765.1:c.3538-63_3538-62insCCC (FANCI) XP_011520067.1:n.3538-63_3538-62insCCC
XM_011521766.1:c.3538-63_3538-62insCCC (FANCI) XP_011520068.1:n.3538-63_3538-62insCCC
XM_011521767.1:c.3538-63_3538-62insCCC (FANCI) XP_011520069.1:n.3538-63_3538-62insCCC
XM_011521769.1:c.3472-63_3472-62insCCC (FANCI) XP_011520071.1:n.3472-63_3472-62insCCC
XM_011521756.2:c.3817-63_3817-62insCCC (FANCI) XP_011520058.1:n.3817-63_3817-62insCCC
XM_011521757.2:c.3817-63_3817-62insCCC (FANCI) XP_011520059.1:n.3817-63_3817-62insCCC
XM_011521764.2:c.3637-63_3637-62insCCC (FANCI) XP_011520066.1:n.3637-63_3637-62insCCC
XM_011521767.2:c.3538-63_3538-62insCCC (FANCI) XP_011520069.1:n.3538-63_3538-62insCCC
NM_001113378.2:c.3817-63_3817-62insCCC (FANCI) MANE Select NP_001106849.1:n.3817-63_3817-62insCCC
NM_001376910.1:c.3538-63_3538-62insCCC (FANCI) NP_001363839.1:n.3538-63_3538-62insCCC
NM_001376911.1:c.3817-63_3817-62insCCC (FANCI) NP_001363840.1:n.3817-63_3817-62insCCC
NM_018193.3:c.3637-63_3637-62insCCC (FANCI) NP_060663.2:n.3637-63_3637-62insCCC