Canonical Allele Identifier: CA2770628234
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456073_35456078del , CM000668.2:g.35456073_35456078del GRCh38
NC_000006.11:g.35423850_35423855del , CM000668.1:g.35423850_35423855del GRCh37
NC_000006.10:g.35531828_35531833del NCBI36
NG_011708.1:g.8713_8718del , LRG_498:g.8713_8718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.575_580del ENSP00000512511.1:p.Arg192_Ser194delinsThr
ENST00000696265.1:c.575_580del ENSP00000512512.1:p.Arg192_Ser194delinsThr
ENST00000696266.1:c.293_298del ENSP00000512513.1:p.Arg98_Ser100delinsThr
ENST00000696267.1:n.215_220del
ENST00000229769.3:c.575_580del MANE Select ENSP00000229769.2:p.Arg192_Ser194delinsThr
ENST00000648059.1:c.575_580del ENSP00000497902.1:p.Arg192_Ser194delinsThr
ENST00000229769.2:c.575_580del ENSP00000229769.2:p.Arg192_Ser194delinsThr
NM_021922.2:c.575_580del , LRG_498t1:c.575_580del NP_068741.1:p.Arg192_Ser194delinsThr
XM_005248885.2:c.575_580del XP_005248942.1:p.Arg192_Ser194delinsThr
XM_005248886.2:c.575_580del XP_005248943.1:p.Arg192_Ser194delinsThr
XM_005248887.2:c.575_580del XP_005248944.1:p.Arg192_Ser194delinsThr
XM_005248888.2:c.575_580del XP_005248945.1:p.Arg192_Ser194delinsThr
XM_011514343.1:c.281_286del XP_011512645.1:p.Arg94_Ser96delinsThr
XM_011514344.1:c.281_286del XP_011512646.1:p.Arg94_Ser96delinsThr
XM_005248888.3:c.575_580del XP_005248945.1:p.Arg192_Ser194delinsThr
XM_011514343.2:c.281_286del XP_011512645.1:p.Arg94_Ser96delinsThr
XR_001743226.1:n.782_787del
XR_002956267.1:n.782_787del
NM_021922.3:c.575_580del MANE Select NP_068741.1:p.Arg192_Ser194delinsThr