Canonical Allele Identifier: CA913190866
Community Standard Title: NM_001113378.2(FANCI):c.286dup (p.Glu96GlyfsTer12)
Gene: FANCI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89260841dup , CM000677.2:g.89260841dup GRCh38
NC_000015.9:g.89804072dup , CM000677.1:g.89804072dup GRCh37
NC_000015.8:g.87605076dup NCBI36
NG_011736.1:g.21879dup , LRG_500:g.21879dup

Transcript Alleles

HGVS Amino-acid Change
NM_001113378.2:c.286dup MANE Select NP_001106849.1:p.Glu96GlyfsTer12
ENST00000310775.12:c.286dup MANE Select ENSP00000310842.8:p.Glu96GlyfsTer12
NM_001113378.1:c.286dup , LRG_500t1:c.286dup NP_001106849.1:p.Glu96GlyfsTer12
NM_001376910.1:c.7dup NP_001363839.1:p.Glu3GlyfsTer12
NM_001376911.1:c.286dup NP_001363840.1:p.Glu96GlyfsTer12
NM_018193.2:c.286dup NP_060663.2:p.Glu96GlyfsTer12
NM_018193.3:c.286dup NP_060663.2:p.Glu96GlyfsTer12
ENST00000300027.12:c.286dup ENSP00000300027.8:p.Glu96GlyfsTer12
ENST00000310775.11:c.286dup ENSP00000310842.7:p.Glu96GlyfsTer12
ENST00000447611.6:c.286dup ENSP00000413249.2:p.Glu96GlyfsTer12
ENST00000563250.5:c.286dup ENSP00000457029.1:p.Glu96GlyfsTer12
ENST00000564920.5:c.286dup ENSP00000456552.1:p.Glu96GlyfsTer12
ENST00000565255.5:c.286dup ENSP00000454371.1:p.Glu96GlyfsTer12
ENST00000565522.5:n.129+13115dup
ENST00000567891.5:c.286dup ENSP00000455735.1:p.Glu96GlyfsTer12
ENST00000567996.5:c.286dup ENSP00000458024.1:p.Glu96GlyfsTer12
ENST00000674831.1:c.286dup ENSP00000502474.1:p.Glu96GlyfsTer12
ENST00000676003.1:c.286dup ENSP00000502254.1:p.Glu96GlyfsTer12
ENST00000696717.1:c.7dup ENSP00000512830.1:p.Glu3GlyfsTer12
ENST00000696718.1:c.-249-744dup ENSP00000512831.1:n.-249-744dup
ENST00000696719.1:c.286dup ENSP00000512832.1:p.Glu96GlyfsTer12
ENST00000696720.1:n.466dup
XM_011521756.1:c.286dup XP_011520058.1:p.Glu96GlyfsTer12
XM_011521756.2:c.286dup XP_011520058.1:p.Glu96GlyfsTer12
XM_011521757.1:c.286dup XP_011520059.1:p.Glu96GlyfsTer12
XM_011521757.2:c.286dup XP_011520059.1:p.Glu96GlyfsTer12
XM_011521758.1:c.286dup XP_011520060.1:p.Glu96GlyfsTer12
XM_011521759.1:c.286dup XP_011520061.1:p.Glu96GlyfsTer12
XM_011521760.1:c.286dup XP_011520062.1:p.Glu96GlyfsTer12
XM_011521761.1:c.286dup XP_011520063.1:p.Glu96GlyfsTer12
XM_011521762.1:c.286dup XP_011520064.1:p.Glu96GlyfsTer12
XM_011521763.1:c.286dup XP_011520065.1:p.Glu96GlyfsTer12
XM_011521764.1:c.286dup XP_011520066.1:p.Glu96GlyfsTer12
XM_011521764.2:c.286dup XP_011520066.1:p.Glu96GlyfsTer12
XM_011521765.1:c.7dup XP_011520067.1:p.Glu3GlyfsTer12
XM_011521766.1:c.7dup XP_011520068.1:p.Glu3GlyfsTer12
XM_011521767.1:c.7dup XP_011520069.1:p.Glu3GlyfsTer12
XM_011521767.2:c.7dup XP_011520069.1:p.Glu3GlyfsTer12
XM_011521768.1:c.286dup XP_011520070.1:p.Glu96GlyfsTer12
XM_011521769.1:c.286dup XP_011520071.1:p.Glu96GlyfsTer12