Canonical Allele Identifier: CA2739272985
Gene: FANCE HGNC NCBI

Linked Data

ClinVar Variation Id: 2895459
ClinVar RCV Id: RCV003619627

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456112_35456113del , CM000668.2:g.35456112_35456113del GRCh38
NC_000006.11:g.35423889_35423890del , CM000668.1:g.35423889_35423890del GRCh37
NC_000006.10:g.35531867_35531868del NCBI36
NG_011708.1:g.8752_8753del , LRG_498:g.8752_8753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.614_615del ENSP00000512511.1:p.Glu205GlyfsTer7
ENST00000696265.1:c.614_615del ENSP00000512512.1:p.Glu205GlyfsTer7
ENST00000696266.1:c.332_333del ENSP00000512513.1:p.Glu111GlyfsTer7
ENST00000696267.1:n.254_255del
ENST00000229769.3:c.614_615del MANE Select ENSP00000229769.2:p.Glu205GlyfsTer7
ENST00000648059.1:c.614_615del ENSP00000497902.1:p.Glu205GlyfsTer7
ENST00000229769.2:c.614_615del ENSP00000229769.2:p.Glu205GlyfsTer7
NM_021922.2:c.614_615del , LRG_498t1:c.614_615del NP_068741.1:p.Glu205GlyfsTer7
XM_005248885.2:c.614_615del XP_005248942.1:p.Glu205GlyfsTer7
XM_005248886.2:c.614_615del XP_005248943.1:p.Glu205GlyfsTer7
XM_005248887.2:c.614_615del XP_005248944.1:p.Glu205GlyfsTer7
XM_005248888.2:c.614_615del XP_005248945.1:p.Glu205GlyfsTer7
XM_011514343.1:c.320_321del XP_011512645.1:p.Glu107GlyfsTer7
XM_011514344.1:c.320_321del XP_011512646.1:p.Glu107GlyfsTer7
XM_005248888.3:c.614_615del XP_005248945.1:p.Glu205GlyfsTer7
XM_011514343.2:c.320_321del XP_011512645.1:p.Glu107GlyfsTer7
XR_001743226.1:n.821_822del
XR_002956267.1:n.821_822del
NM_021922.3:c.614_615del MANE Select NP_068741.1:p.Glu205GlyfsTer7