Canonical Allele Identifier: CA363777822

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35460620T>C , CM000668.2:g.35460620T>C	GRCh38
NC_000006.11:g.35428397T>C , CM000668.1:g.35428397T>C	GRCh37
NC_000006.10:g.35536375T>C	NCBI36
NG_011708.1:g.13260T>C , LRG_498:g.13260T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.1383+2T>C MANE Select	NP_068741.1:n.1383+2T>C
ENST00000229769.3:c.1383+2T>C MANE Select	ENSP00000229769.2:n.1383+2T>C
NM_021922.2:c.1383+2T>C , LRG_498t1:c.1383+2T>C	NP_068741.1:n.1383+2T>C
ENST00000229769.2:c.1383+2T>C	ENSP00000229769.2:n.1383+2T>C
ENST00000648059.1:c.1383+2T>C	ENSP00000497902.1:n.1383+2T>C
ENST00000696264.1:c.1316+860T>C	ENSP00000512511.1:n.1316+860T>C
ENST00000696265.1:c.1316+860T>C	ENSP00000512512.1:n.1316+860T>C
ENST00000696266.1:c.1028+2T>C	ENSP00000512513.1:n.1028+2T>C
ENST00000696267.1:n.1650+2T>C
ENST00000696268.1:n.245T>C
XM_005248885.2:c.1362+2T>C	XP_005248942.1:n.1362+2T>C
XM_005248886.2:c.1314+2T>C	XP_005248943.1:n.1314+2T>C
XM_005248887.2:c.1383+2T>C	XP_005248944.1:n.1383+2T>C
XM_005248888.2:c.1316+860T>C	XP_005248945.1:n.1316+860T>C
XM_005248888.3:c.1316+860T>C	XP_005248945.1:n.1316+860T>C
XM_011514343.1:c.1089+2T>C	XP_011512645.1:n.1089+2T>C
XM_011514343.2:c.1089+2T>C	XP_011512645.1:n.1089+2T>C
XM_011514344.1:c.1089+2T>C	XP_011512646.1:n.1089+2T>C
XR_001743226.1:n.1523+860T>C
XR_002956267.1:n.1817+860T>C