Canonical Allele Identifier: CA1620905518
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456016_35456017delinsTG , CM000668.2:g.35456016_35456017delinsTG GRCh38
NC_000006.11:g.35423793_35423794delinsTG , CM000668.1:g.35423793_35423794delinsTG GRCh37
NC_000006.10:g.35531771_35531772delinsTG NCBI36
NG_011708.1:g.8656_8657delinsTG , LRG_498:g.8656_8657delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.518_519delinsTG ENSP00000512511.1:p.Leu173=
ENST00000696265.1:c.518_519delinsTG ENSP00000512512.1:p.Leu173=
ENST00000696266.1:c.236_237delinsTG ENSP00000512513.1:p.Leu79=
ENST00000696267.1:n.158_159delinsTG
ENST00000229769.3:c.518_519delinsTG MANE Select ENSP00000229769.2:p.Leu173=
ENST00000648059.1:c.518_519delinsTG ENSP00000497902.1:p.Leu173=
ENST00000229769.2:c.518_519delinsTG ENSP00000229769.2:p.Leu173=
NM_021922.2:c.518_519delinsTG , LRG_498t1:c.518_519delinsTG NP_068741.1:p.Leu173=
XM_005248885.2:c.518_519delinsTG XP_005248942.1:p.Leu173=
XM_005248886.2:c.518_519delinsTG XP_005248943.1:p.Leu173=
XM_005248887.2:c.518_519delinsTG XP_005248944.1:p.Leu173=
XM_005248888.2:c.518_519delinsTG XP_005248945.1:p.Leu173=
XM_011514343.1:c.224_225delinsTG XP_011512645.1:p.Leu75=
XM_011514344.1:c.224_225delinsTG XP_011512646.1:p.Leu75=
XM_005248888.3:c.518_519delinsTG XP_005248945.1:p.Leu173=
XM_011514343.2:c.224_225delinsTG XP_011512645.1:p.Leu75=
XR_001743226.1:n.725_726delinsTG
XR_002956267.1:n.725_726delinsTG
NM_021922.3:c.518_519delinsTG MANE Select NP_068741.1:p.Leu173=