Canonical Allele Identifier: CA2573136012

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10063830_10063831delinsAT , CM000665.2:g.10063830_10063831delinsAT	GRCh38
NC_000003.11:g.10105514_10105515delinsAT , CM000665.1:g.10105514_10105515delinsAT	GRCh37
NC_000003.10:g.10080514_10080515delinsAT	NCBI36
NG_007311.1:g.42402_42403delinsAT , LRG_306:g.42402_42403delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.1866_1867delinsAT MANE Select	NP_001018125.1:p.Glu623Ter
ENST00000675286.1:c.1866_1867delinsAT MANE Select	ENSP00000502379.1:p.Glu623Ter
NM_001018115.1:c.1866_1867delinsAT , LRG_306t1:c.1866_1867delinsAT	NP_001018125.1:p.Glu623Ter
NM_001018115.2:c.1866_1867delinsAT	NP_001018125.1:p.Glu623Ter
NM_001319984.1:c.1866_1867delinsAT	NP_001306913.1:p.Glu623Ter
NM_001319984.2:c.1866_1867delinsAT	NP_001306913.1:p.Glu623Ter
NM_001374253.1:c.1755_1756delinsAT	NP_001361182.1:p.Glu586Ter
NM_001374254.1:c.1866_1867delinsAT	NP_001361183.1:p.Glu623Ter
NM_033084.3:c.1866_1867delinsAT , LRG_306t2:c.1866_1867delinsAT	NP_149075.2:p.Glu623Ter
NM_033084.4:c.1866_1867delinsAT	NP_149075.2:p.Glu623Ter
NM_033084.6:c.1866_1867delinsAT	NP_149075.2:p.Glu623Ter
ENST00000287647.7:c.1866_1867delinsAT	ENSP00000287647.3:p.Glu623Ter
ENST00000383807.5:c.1866_1867delinsAT	ENSP00000373318.1:p.Glu623Ter
ENST00000419585.5:c.1866_1867delinsAT	ENSP00000398754.1:p.Glu623Ter
ENST00000421731.5:c.365_366delinsAT
ENST00000676013.1:c.1755_1756delinsAT	ENSP00000501999.1:p.Glu586Ter
ENST00000681997.1:n.950_951delinsAT
ENST00000682647.1:c.*1786_*1787delinsAT	ENSP00000506736.1:n.*1786_*1787delinsAT
ENST00000683263.1:n.865_866delinsAT
XM_005264946.2:c.1866_1867delinsAT	XP_005265003.1:p.Glu623Ter
XM_005264947.2:c.-56_-55delinsAT	XP_005265004.1:n.-56_-55delinsAT
XM_006713021.2:c.1866_1867delinsAT	XP_006713084.1:p.Glu623Ter
XM_006713023.2:c.1866_1867delinsAT	XP_006713086.1:p.Glu623Ter
XM_006713024.2:c.1866_1867delinsAT	XP_006713087.1:p.Glu623Ter
XM_011533479.1:c.1866_1867delinsAT	XP_011531781.1:p.Glu623Ter
XM_011533480.1:c.717_718delinsAT	XP_011531782.1:p.Glu240Ter
XR_940391.1:n.1986_1987delinsAT