Canonical Allele Identifier: CA450123868

Gene: FANCE

Linked Data

• MyVariant Identifiers: chr6:g.35423968_35423969insGAGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456194_35456197dup , CM000668.2:g.35456194_35456197dup	GRCh38
NC_000006.11:g.35423971_35423974dup , CM000668.1:g.35423971_35423974dup	GRCh37
NC_000006.10:g.35531949_35531952dup	NCBI36
NG_011708.1:g.8834_8837dup , LRG_498:g.8834_8837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.696_699dup	ENSP00000512511.1:p.Pro234GlufsTer5
ENST00000696265.1:c.696_699dup	ENSP00000512512.1:p.Pro234GlufsTer5
ENST00000696266.1:c.414_417dup	ENSP00000512513.1:p.Pro140GlufsTer5
ENST00000696267.1:n.336_339dup
ENST00000229769.3:c.696_699dup MANE Select	ENSP00000229769.2:p.Pro234GlufsTer5
ENST00000648059.1:c.696_699dup	ENSP00000497902.1:p.Pro234GlufsTer5
ENST00000229769.2:c.696_699dup	ENSP00000229769.2:p.Pro234GlufsTer5
NM_021922.2:c.696_699dup , LRG_498t1:c.696_699dup	NP_068741.1:p.Pro234GlufsTer5
XM_005248885.2:c.696_699dup	XP_005248942.1:p.Pro234GlufsTer5
XM_005248886.2:c.696_699dup	XP_005248943.1:p.Pro234GlufsTer5
XM_005248887.2:c.696_699dup	XP_005248944.1:p.Pro234GlufsTer5
XM_005248888.2:c.696_699dup	XP_005248945.1:p.Pro234GlufsTer5
XM_011514343.1:c.402_405dup	XP_011512645.1:p.Pro136GlufsTer5
XM_011514344.1:c.402_405dup	XP_011512646.1:p.Pro136GlufsTer5
XM_005248888.3:c.696_699dup	XP_005248945.1:p.Pro234GlufsTer5
XM_011514343.2:c.402_405dup	XP_011512645.1:p.Pro136GlufsTer5
XR_001743226.1:n.903_906dup
XR_002956267.1:n.903_906dup
NM_021922.3:c.696_699dup MANE Select	NP_068741.1:p.Pro234GlufsTer5