Canonical Allele Identifier: CA1620905594

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456186_35456189delinsGAGA , CM000668.2:g.35456186_35456189delinsGAGA	GRCh38
NC_000006.11:g.35423963_35423966delinsGAGA , CM000668.1:g.35423963_35423966delinsGAGA	GRCh37
NC_000006.10:g.35531941_35531944delinsGAGA	NCBI36
NG_011708.1:g.8826_8829delinsGAGA , LRG_498:g.8826_8829delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.688_691delinsGAGA	ENSP00000512511.1:p.Glu230=
ENST00000696265.1:c.688_691delinsGAGA	ENSP00000512512.1:p.Glu230=
ENST00000696266.1:c.406_409delinsGAGA	ENSP00000512513.1:p.Glu136=
ENST00000696267.1:n.328_331delinsGAGA
ENST00000229769.3:c.688_691delinsGAGA MANE Select	ENSP00000229769.2:p.Glu230=
ENST00000648059.1:c.688_691delinsGAGA	ENSP00000497902.1:p.Glu230=
ENST00000229769.2:c.688_691delinsGAGA	ENSP00000229769.2:p.Glu230=
NM_021922.2:c.688_691delinsGAGA , LRG_498t1:c.688_691delinsGAGA	NP_068741.1:p.Glu230=
XM_005248885.2:c.688_691delinsGAGA	XP_005248942.1:p.Glu230=
XM_005248886.2:c.688_691delinsGAGA	XP_005248943.1:p.Glu230=
XM_005248887.2:c.688_691delinsGAGA	XP_005248944.1:p.Glu230=
XM_005248888.2:c.688_691delinsGAGA	XP_005248945.1:p.Glu230=
XM_011514343.1:c.394_397delinsGAGA	XP_011512645.1:p.Glu132=
XM_011514344.1:c.394_397delinsGAGA	XP_011512646.1:p.Glu132=
XM_005248888.3:c.688_691delinsGAGA	XP_005248945.1:p.Glu230=
XM_011514343.2:c.394_397delinsGAGA	XP_011512645.1:p.Glu132=
XR_001743226.1:n.895_898delinsGAGA
XR_002956267.1:n.895_898delinsGAGA
NM_021922.3:c.688_691delinsGAGA MANE Select	NP_068741.1:p.Glu230=