Canonical Allele Identifier: CA1345028123

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10041634_10041635del , CM000665.2:g.10041634_10041635del	GRCh38
NC_000003.11:g.10083318_10083319del , CM000665.1:g.10083318_10083319del	GRCh37
NC_000003.10:g.10058318_10058319del	NCBI36
NG_007311.1:g.20206_20207del , LRG_306:g.20206_20207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682647.1:c.*704-925_*704-924del	ENSP00000506736.1:n.*704-925_*704-924del
ENST00000675286.1:c.707_708del MANE Select	ENSP00000502379.1:p.Ile236ArgfsTer19
ENST00000676013.1:c.707_708del	ENSP00000501999.1:p.Ile236ArgfsTer19
ENST00000287647.7:c.707_708del	ENSP00000287647.3:p.Ile236ArgfsTer19
ENST00000383807.5:c.707_708del	ENSP00000373318.1:p.Ile236ArgfsTer19
ENST00000419585.5:c.707_708del	ENSP00000398754.1:p.Ile236ArgfsTer19
NM_001018115.1:c.707_708del , LRG_306t1:c.707_708del	NP_001018125.1:p.Ile236ArgfsTer19
NM_033084.3:c.707_708del , LRG_306t2:c.707_708del	NP_149075.2:p.Ile236ArgfsTer19
XM_005264946.2:c.707_708del	XP_005265003.1:p.Ile236ArgfsTer19
XM_006713021.2:c.707_708del	XP_006713084.1:p.Ile236ArgfsTer19
XM_006713023.2:c.707_708del	XP_006713086.1:p.Ile236ArgfsTer19
XM_006713024.2:c.707_708del	XP_006713087.1:p.Ile236ArgfsTer19
XM_011533479.1:c.707_708del	XP_011531781.1:p.Ile236ArgfsTer19
XR_940391.1:n.827_828del
NM_001018115.2:c.707_708del	NP_001018125.1:p.Ile236ArgfsTer19
NM_001319984.1:c.707_708del	NP_001306913.1:p.Ile236ArgfsTer19
NM_033084.4:c.707_708del	NP_149075.2:p.Ile236ArgfsTer19
NM_001018115.3:c.707_708del MANE Select	NP_001018125.1:p.Ile236ArgfsTer19
NM_001319984.2:c.707_708del	NP_001306913.1:p.Ile236ArgfsTer19
NM_001374253.1:c.707_708del	NP_001361182.1:p.Ile236ArgfsTer19
NM_001374254.1:c.707_708del	NP_001361183.1:p.Ile236ArgfsTer19
NM_033084.6:c.707_708del	NP_149075.2:p.Ile236ArgfsTer19