Canonical Allele Identifier: CA2580092416

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89769914_89769915delinsGT , CM000678.2:g.89769914_89769915delinsGT	GRCh38
NC_000016.9:g.89836322_89836323delinsGT , CM000678.1:g.89836322_89836323delinsGT	GRCh37
NC_000016.8:g.88363823_88363824delinsGT	NCBI36
NG_011706.1:g.51743_51744delinsAC , LRG_495:g.51743_51744delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*920_*921delinsAC	ENSP00000512522.1:n.*920_*921delinsAC
ENST00000564475.6:c.2426_2427delinsAC	ENSP00000454977.2:p.Gly809Asp
ENST00000567205.2:c.2426_2427delinsAC	ENSP00000457027.2:p.Gly809Asp
ENST00000567510.2:c.1125_1126delinsAC	ENSP00000455969.1:n.1125_1126delinsAC
ENST00000568369.6:c.2426_2427delinsAC	ENSP00000456829.1:p.Gly809Asp
ENST00000696274.1:n.2387_2388delinsAC
ENST00000696275.1:c.*1661_*1662delinsAC	ENSP00000512517.1:n.*1661_*1662delinsAC
ENST00000696276.1:n.2469_2470delinsAC
ENST00000696286.1:c.2426_2427delinsAC	ENSP00000512523.1:p.Gly809Asp
ENST00000696287.1:c.2426_2427delinsAC	ENSP00000512524.1:p.Gly809Asp
ENST00000696291.1:c.*2146_*2147delinsAC	ENSP00000512530.1:n.*2146_*2147delinsAC
ENST00000389301.8:c.2426_2427delinsAC MANE Select	ENSP00000373952.3:p.Gly809Asp
ENST00000389301.7:c.2426_2427delinsAC	ENSP00000373952.3:p.Gly809Asp
ENST00000567205.1:c.110_111delinsAC	ENSP00000457027.1:p.Gly37Asp
ENST00000568369.5:c.2426_2427delinsAC	ENSP00000456829.1:p.Gly809Asp
NM_000135.2:c.2426_2427delinsAC , LRG_495t1:c.2426_2427delinsAC	NP_000126.2:p.Gly809Asp
NM_001286167.1:c.2426_2427delinsAC	NP_001273096.1:p.Gly809Asp
XM_005256294.3:c.2426_2427delinsAC	XP_005256351.1:p.Gly809Asp
XM_011522945.1:c.2426_2427delinsAC	XP_011521247.1:p.Gly809Asp
XM_011522946.1:c.1403_1404delinsAC	XP_011521248.1:p.Gly468Asp
XM_011522947.1:c.1403_1404delinsAC	XP_011521249.1:p.Gly468Asp
XR_933244.1:n.2469_2470delinsAC
XR_933245.1:n.2469_2470delinsAC
XR_933246.1:n.2469_2470delinsAC
XR_933247.1:n.2469_2470delinsAC
NM_000135.3:c.2426_2427delinsAC	NP_000126.2:p.Gly809Asp
NM_001286167.2:c.2426_2427delinsAC	NP_001273096.1:p.Gly809Asp
XM_005256294.4:c.2426_2427delinsAC	XP_005256351.1:p.Gly809Asp
XM_011522945.2:c.2426_2427delinsAC	XP_011521247.1:p.Gly809Asp
XM_011522946.3:c.1403_1404delinsAC	XP_011521248.1:p.Gly468Asp
XM_011522947.2:c.1403_1404delinsAC	XP_011521249.1:p.Gly468Asp
XM_017023044.2:c.2426_2427delinsAC	XP_016878533.1:p.Gly809Asp
XM_017023045.1:c.2426_2427delinsAC	XP_016878534.1:p.Gly809Asp
XM_024450189.1:c.1403_1404delinsAC	XP_024305957.1:p.Gly468Asp
XR_001751866.1:n.2469_2470delinsAC
XR_933244.2:n.2469_2470delinsAC
XR_933245.2:n.2469_2470delinsAC
XR_933247.2:n.2469_2470delinsAC
NM_000135.4:c.2426_2427delinsAC MANE Select	NP_000126.2:p.Gly809Asp
NM_001286167.3:c.2426_2427delinsAC	NP_001273096.1:p.Gly809Asp