Canonical Allele Identifier: CA1865416580

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs2071936915

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111542_95111543insA , CM000671.2:g.95111542_95111543insA	GRCh38
NC_000009.11:g.97873824_97873825insA , CM000671.1:g.97873824_97873825insA	GRCh37
NC_000009.10:g.96913645_96913646insA	NCBI36
NG_011707.1:g.211167_211168insT , LRG_497:g.211167_211168insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30762_410+30763insA (AOPEP)
ENST00000696260.1:n.2064_2065insT (FANCC)
ENST00000289081.8:c.1249_1250insT (FANCC) MANE Select	ENSP00000289081.3:p.Glu417ValfsTer18
ENST00000375305.6:c.1249_1250insT (FANCC)	ENSP00000364454.1:p.Glu417ValfsTer18
ENST00000490972.7:c.1249_1250insT (FANCC)	ENSP00000479931.1:p.Glu417ValfsTer18
ENST00000649334.1:c.1394_1395insT (FANCC)	ENSP00000497735.1:n.1394_1395insT
ENST00000289081.7:c.1249_1250insT (FANCC)	ENSP00000289081.3:p.Glu417ValfsTer18
ENST00000375305.5:c.1249_1250insT (FANCC)	ENSP00000364454.1:p.Glu417ValfsTer18
ENST00000464627.5:n.576_577insT (FANCC)
ENST00000477942.5:n.604_605insT (FANCC)
ENST00000480712.5:n.434_435insT (FANCC)
ENST00000490972.6:c.1249_1250insT (FANCC)	ENSP00000479931.1:p.Glu417ValfsTer18
NM_000136.2:c.1249_1250insT , LRG_497t1:c.1249_1250insT (FANCC)	NP_000127.2:p.Glu417ValfsTer18
NM_001243743.1:c.1249_1250insT (FANCC)	NP_001230672.1:p.Glu417ValfsTer18
NM_001243744.1:c.1249_1250insT (FANCC)	NP_001230673.1:p.Glu417ValfsTer18
XM_005251802.2:c.568_569insT (FANCC)	XP_005251859.1:p.Glu190ValfsTer18
XM_006717001.1:c.1084_1085insT (FANCC)	XP_006717064.1:p.Glu362ValfsTer18
XM_006717002.2:c.1249_1250insT (FANCC)	XP_006717065.1:p.Glu417ValfsTer18
XM_011518365.1:c.1249_1250insT (FANCC)	XP_011516667.1:p.Glu417ValfsTer18
XM_011518366.1:c.1249_1250insT (FANCC)	XP_011516668.1:p.Glu417ValfsTer18
XM_011518367.1:c.793_794insT (FANCC)	XP_011516669.1:p.Glu265ValfsTer18
XM_011519121.1:c.2319+30762_2319+30763insA (AOPEP)	XP_011517423.1:n.2319+30762_2319+30763insA
XM_005251802.3:c.568_569insT (FANCC)	XP_005251859.1:p.Glu190ValfsTer18
XM_006717001.3:c.1084_1085insT (FANCC)	XP_006717064.1:p.Glu362ValfsTer18
XM_006717002.4:c.1249_1250insT (FANCC)	XP_006717065.1:p.Glu417ValfsTer18
XM_006717004.4:c.*144_*145insT (FANCC)	XP_006717067.1:n.*144_*145insT
XM_011518365.3:c.1249_1250insT (FANCC)	XP_011516667.1:p.Glu417ValfsTer18
XM_011518366.3:c.1249_1250insT (FANCC)	XP_011516668.1:p.Glu417ValfsTer18
XM_011518367.2:c.793_794insT (FANCC)	XP_011516669.1:p.Glu265ValfsTer18
XM_011519121.3:c.2319+30762_2319+30763insA (AOPEP)	XP_011517423.1:n.2319+30762_2319+30763insA
XM_017014452.2:c.793_794insT (FANCC)	XP_016869941.1:p.Glu265ValfsTer18
XM_017014453.1:c.793_794insT (FANCC)	XP_016869942.1:p.Glu265ValfsTer18
XM_017014454.1:c.628_629insT (FANCC)	XP_016869943.1:p.Glu210ValfsTer18
XM_024447451.1:c.1249_1250insT (FANCC)	XP_024303219.1:p.Glu417ValfsTer18
NM_000136.3:c.1249_1250insT (FANCC) MANE Select	NP_000127.2:p.Glu417ValfsTer18
NM_001243743.2:c.1249_1250insT (FANCC)	NP_001230672.1:p.Glu417ValfsTer18
NM_001243744.2:c.1249_1250insT (FANCC)	NP_001230673.1:p.Glu417ValfsTer18