Canonical Allele Identifier: CA972591383

Gene: FANCI

Linked Data

• dbSNP Id: rs2052843598
• gnomAD v3: 15-89264245-C-CATT
• gnomAD v4: 15-89264245-C-CATT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89264248_89264250dup , CM000677.2:g.89264248_89264250dup	GRCh38
NC_000015.9:g.89807479_89807481dup , CM000677.1:g.89807479_89807481dup	GRCh37
NC_000015.8:g.87608483_87608485dup	NCBI36
NG_011736.1:g.25286_25288dup , LRG_500:g.25286_25288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.390+222_390+224dup	ENSP00000512830.1:n.390+222_390+224dup
ENST00000696718.1:c.132+222_132+224dup	ENSP00000512831.1:n.132+222_132+224dup
ENST00000696719.1:c.669+222_669+224dup	ENSP00000512832.1:n.669+222_669+224dup
ENST00000310775.12:c.669+222_669+224dup MANE Select	ENSP00000310842.8:n.669+222_669+224dup
ENST00000674831.1:c.669+222_669+224dup	ENSP00000502474.1:n.669+222_669+224dup
ENST00000676003.1:c.669+222_669+224dup	ENSP00000502254.1:n.669+222_669+224dup
ENST00000300027.12:c.669+222_669+224dup	ENSP00000300027.8:n.669+222_669+224dup
ENST00000310775.11:c.669+222_669+224dup	ENSP00000310842.7:n.669+222_669+224dup
ENST00000447611.6:c.669+222_669+224dup	ENSP00000413249.2:n.669+222_669+224dup
ENST00000561894.1:c.148+222_148+224dup
ENST00000565522.5:n.129+16522_129+16524dup
ENST00000567996.5:c.669+222_669+224dup	ENSP00000458024.1:n.669+222_669+224dup
ENST00000570225.5:c.207+222_207+224dup	ENSP00000454669.1:n.207+222_207+224dup
NM_001113378.1:c.669+222_669+224dup , LRG_500t1:c.669+222_669+224dup	NP_001106849.1:n.669+222_669+224dup
NM_018193.2:c.669+222_669+224dup	NP_060663.2:n.669+222_669+224dup
XM_011521756.1:c.669+222_669+224dup	XP_011520058.1:n.669+222_669+224dup
XM_011521757.1:c.669+222_669+224dup	XP_011520059.1:n.669+222_669+224dup
XM_011521758.1:c.669+222_669+224dup	XP_011520060.1:n.669+222_669+224dup
XM_011521759.1:c.669+222_669+224dup	XP_011520061.1:n.669+222_669+224dup
XM_011521760.1:c.669+222_669+224dup	XP_011520062.1:n.669+222_669+224dup
XM_011521761.1:c.669+222_669+224dup	XP_011520063.1:n.669+222_669+224dup
XM_011521762.1:c.669+222_669+224dup	XP_011520064.1:n.669+222_669+224dup
XM_011521763.1:c.669+222_669+224dup	XP_011520065.1:n.669+222_669+224dup
XM_011521764.1:c.669+222_669+224dup	XP_011520066.1:n.669+222_669+224dup
XM_011521765.1:c.390+222_390+224dup	XP_011520067.1:n.390+222_390+224dup
XM_011521766.1:c.390+222_390+224dup	XP_011520068.1:n.390+222_390+224dup
XM_011521767.1:c.390+222_390+224dup	XP_011520069.1:n.390+222_390+224dup
XM_011521768.1:c.669+222_669+224dup	XP_011520070.1:n.669+222_669+224dup
XM_011521769.1:c.669+222_669+224dup	XP_011520071.1:n.669+222_669+224dup
XM_011521756.2:c.669+222_669+224dup	XP_011520058.1:n.669+222_669+224dup
XM_011521757.2:c.669+222_669+224dup	XP_011520059.1:n.669+222_669+224dup
XM_011521764.2:c.669+222_669+224dup	XP_011520066.1:n.669+222_669+224dup
XM_011521767.2:c.390+222_390+224dup	XP_011520069.1:n.390+222_390+224dup
NM_001113378.2:c.669+222_669+224dup MANE Select	NP_001106849.1:n.669+222_669+224dup
NM_001376910.1:c.390+222_390+224dup	NP_001363839.1:n.390+222_390+224dup
NM_001376911.1:c.669+222_669+224dup	NP_001363840.1:n.669+222_669+224dup
NM_018193.3:c.669+222_669+224dup	NP_060663.2:n.669+222_669+224dup