Canonical Allele Identifier: CA2664393886

Gene: FANCD2 FANCD2OS

Linked Data

• gnomAD v4: 3-10098947-A-AAGAGCAAAGCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10098947_10098948insAGAGCAAAGCCAC , CM000665.2:g.10098947_10098948insAGAGCAAAGCCAC	GRCh38
NC_000003.11:g.10140631_10140632insAGAGCAAAGCCAC , CM000665.1:g.10140631_10140632insAGAGCAAAGCCAC	GRCh37
NC_000003.10:g.10115631_10115632insAGAGCAAAGCCAC	NCBI36
NG_007311.1:g.77519_77520insAGAGCAAAGCCAC , LRG_306:g.77519_77520insAGAGCAAAGCCAC
NG_042053.1:g.14284_14285insGTGGCTTTGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.3497_3498insAGAGCAAAGCCAC (FANCD2)
ENST00000683263.1:n.3412_3413insAGAGCAAAGCCAC (FANCD2)
ENST00000683312.1:n.3964_3965insAGAGCAAAGCCAC (FANCD2)
ENST00000675286.1:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2) MANE Select	ENSP00000502379.1:n.4281+132_4281+133insAGAGCAAAGCCAC
ENST00000676013.1:c.4170+132_4170+133insAGAGCAAAGCCAC (FANCD2)	ENSP00000501999.1:n.4170+132_4170+133insAGAGCAAAGCCAC
ENST00000287647.7:c.4413_4414insAGAGCAAAGCCAC (FANCD2)	ENSP00000287647.3:p.Ter1472ArgextTer12
ENST00000383807.5:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	ENSP00000373318.1:n.4281+132_4281+133insAGAGCAAAGCCAC
ENST00000419585.5:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	ENSP00000398754.1:n.4281+132_4281+133insAGAGCAAAGCCAC
ENST00000421731.5:c.2686+132_2686+133insAGAGCAAAGCCAC (FANCD2)
ENST00000431315.5:n.71-4058_71-4057insGTGGCTTTGCTCT (FANCD2OS)
ENST00000470028.1:n.354+132_354+133insAGAGCAAAGCCAC (FANCD2)
ENST00000524279.1:c.*43+5250_*43+5251insGTGGCTTTGCTCT (FANCD2OS)	ENSP00000429663.1:n.*43+5250_*43+5251insGTGGCTTTGCTCT
NM_001018115.1:c.4281+132_4281+133insAGAGCAAAGCCAC , LRG_306t1:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	NP_001018125.1:n.4281+132_4281+133insAGAGCAAAGCCAC
NM_033084.3:c.4413_4414insAGAGCAAAGCCAC , LRG_306t2:c.4413_4414insAGAGCAAAGCCAC (FANCD2)	NP_149075.2:p.Ter1472ArgextTer12
NM_173472.1:c.*43+5250_*43+5251insGTGGCTTTGCTCT (FANCD2OS)	NP_775743.1:n.*43+5250_*43+5251insGTGGCTTTGCTCT
XM_005264946.2:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	XP_005265003.1:n.4281+132_4281+133insAGAGCAAAGCCAC
XM_005264947.2:c.2418_2419insAGAGCAAAGCCAC (FANCD2)	XP_005265004.1:p.Ter807ArgextTer12
XM_006713021.2:c.4413_4414insAGAGCAAAGCCAC (FANCD2)	XP_006713084.1:p.Ter1472ArgextTer12
XM_006713023.2:c.4374_4375insAGAGCAAAGCCAC (FANCD2)	XP_006713086.1:p.Ter1459ArgextTer12
XM_006713024.2:c.4296_4297insAGAGCAAAGCCAC (FANCD2)	XP_006713087.1:p.Ter1433ArgextTer12
XM_011533480.1:c.3264_3265insAGAGCAAAGCCAC (FANCD2)	XP_011531782.1:p.Ter1089ArgextTer12
NM_001018115.2:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	NP_001018125.1:n.4281+132_4281+133insAGAGCAAAGCCAC
NM_001319984.1:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	NP_001306913.1:n.4281+132_4281+133insAGAGCAAAGCCAC
NM_033084.4:c.4413_4414insAGAGCAAAGCCAC (FANCD2)	NP_149075.2:p.Ter1472ArgextTer12
NM_001018115.3:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2) MANE Select	NP_001018125.1:n.4281+132_4281+133insAGAGCAAAGCCAC
NM_001319984.2:c.4281+132_4281+133insAGAGCAAAGCCAC (FANCD2)	NP_001306913.1:n.4281+132_4281+133insAGAGCAAAGCCAC
NM_001374253.1:c.4170+132_4170+133insAGAGCAAAGCCAC (FANCD2)	NP_001361182.1:n.4170+132_4170+133insAGAGCAAAGCCAC
NM_001374254.1:c.4374_4375insAGAGCAAAGCCAC (FANCD2)	NP_001361183.1:p.Ter1459ArgextTer12
NM_033084.6:c.4413_4414insAGAGCAAAGCCAC (FANCD2)	NP_149075.2:p.Ter1472ArgextTer12
NM_173472.2:c.*43+5250_*43+5251insGTGGCTTTGCTCT (FANCD2OS)	NP_775743.1:n.*43+5250_*43+5251insGTGGCTTTGCTCT