Canonical Allele Identifier: CA1620905589

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456173_35456176delinsGGAA , CM000668.2:g.35456173_35456176delinsGGAA	GRCh38
NC_000006.11:g.35423950_35423953delinsGGAA , CM000668.1:g.35423950_35423953delinsGGAA	GRCh37
NC_000006.10:g.35531928_35531931delinsGGAA	NCBI36
NG_011708.1:g.8813_8816delinsGGAA , LRG_498:g.8813_8816delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.675_678delinsGGAA	ENSP00000512511.1:p.Glu225=
ENST00000696265.1:c.675_678delinsGGAA	ENSP00000512512.1:p.Glu225=
ENST00000696266.1:c.393_396delinsGGAA	ENSP00000512513.1:p.Glu131=
ENST00000696267.1:n.315_318delinsGGAA
ENST00000229769.3:c.675_678delinsGGAA MANE Select	ENSP00000229769.2:p.Glu225=
ENST00000648059.1:c.675_678delinsGGAA	ENSP00000497902.1:p.Glu225=
ENST00000229769.2:c.675_678delinsGGAA	ENSP00000229769.2:p.Glu225=
NM_021922.2:c.675_678delinsGGAA , LRG_498t1:c.675_678delinsGGAA	NP_068741.1:p.Glu225=
XM_005248885.2:c.675_678delinsGGAA	XP_005248942.1:p.Glu225=
XM_005248886.2:c.675_678delinsGGAA	XP_005248943.1:p.Glu225=
XM_005248887.2:c.675_678delinsGGAA	XP_005248944.1:p.Glu225=
XM_005248888.2:c.675_678delinsGGAA	XP_005248945.1:p.Glu225=
XM_011514343.1:c.381_384delinsGGAA	XP_011512645.1:p.Glu127=
XM_011514344.1:c.381_384delinsGGAA	XP_011512646.1:p.Glu127=
XM_005248888.3:c.675_678delinsGGAA	XP_005248945.1:p.Glu225=
XM_011514343.2:c.381_384delinsGGAA	XP_011512645.1:p.Glu127=
XR_001743226.1:n.882_885delinsGGAA
XR_002956267.1:n.882_885delinsGGAA
NM_021922.3:c.675_678delinsGGAA MANE Select	NP_068741.1:p.Glu225=