Canonical Allele Identifier: CA16618881
Gene: AOPEP HGNC NCBI
FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 422160
ClinVar RCV Id: RCV000482484
dbSNP Id: rs1064795597
MyVariant Identifiers: chr9:g.97879625_97879626del (hg19) chr9:g.95117343_95117344del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95117343_95117344del , CM000671.2:g.95117343_95117344del GRCh38
NC_000009.11:g.97879625_97879626del , CM000671.1:g.97879625_97879626del GRCh37
NC_000009.10:g.96919446_96919447del NCBI36
NG_011707.1:g.205366_205367del , LRG_497:g.205366_205367del

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.411-29868_411-29867del (AOPEP)
ENST00000289081.8:c.1043_1044del (FANCC) MANE Select ENSP00000289081.3:p.Leu348ArgfsTer25
ENST00000375305.6:c.1043_1044del (FANCC) ENSP00000364454.1:p.Leu348ArgfsTer25
ENST00000490972.7:c.1043_1044del (FANCC) ENSP00000479931.1:p.Leu348ArgfsTer25
ENST00000649334.1:c.1188_1189del (FANCC) ENSP00000497735.1:n.1188_1189del
ENST00000289081.7:c.1043_1044del (FANCC) ENSP00000289081.3:p.Leu348ArgfsTer25
ENST00000375305.5:c.1043_1044del (FANCC) ENSP00000364454.1:p.Leu348ArgfsTer25
ENST00000464627.5:n.370_371del (FANCC)
ENST00000464653.1:n.1039_1040del (FANCC)
ENST00000477942.5:n.398_399del (FANCC)
ENST00000480712.5:n.228_229del (FANCC)
ENST00000490972.6:c.1043_1044del (FANCC) ENSP00000479931.1:p.Leu348ArgfsTer25
NM_000136.2:c.1043_1044del , LRG_497t1:c.1043_1044del (FANCC) NP_000127.2:p.Leu348ArgfsTer25
NM_001243743.1:c.1043_1044del (FANCC) NP_001230672.1:p.Leu348ArgfsTer25
NM_001243744.1:c.1043_1044del (FANCC) NP_001230673.1:p.Leu348ArgfsTer25
XM_005251802.2:c.362_363del (FANCC) XP_005251859.1:p.Leu121ArgfsTer25
XM_006717001.1:c.878_879del (FANCC) XP_006717064.1:p.Leu293ArgfsTer25
XM_006717002.2:c.1043_1044del (FANCC) XP_006717065.1:p.Leu348ArgfsTer25
XM_006717004.2:c.997-2634_997-2633del (FANCC) XP_006717067.1:n.997-2634_997-2633del
XM_011518365.1:c.1043_1044del (FANCC) XP_011516667.1:p.Leu348ArgfsTer25
XM_011518366.1:c.1043_1044del (FANCC) XP_011516668.1:p.Leu348ArgfsTer25
XM_011518367.1:c.587_588del (FANCC) XP_011516669.1:p.Leu196ArgfsTer25
XM_011519121.1:c.2320-29868_2320-29867del (AOPEP) XP_011517423.1:n.2320-29868_2320-29867del...
XM_005251802.3:c.362_363del (FANCC) XP_005251859.1:p.Leu121ArgfsTer25
XM_006717001.3:c.878_879del (FANCC) XP_006717064.1:p.Leu293ArgfsTer25
XM_006717002.4:c.1043_1044del (FANCC) XP_006717065.1:p.Leu348ArgfsTer25
XM_006717004.4:c.997-2634_997-2633del (FANCC) XP_006717067.1:n.997-2634_997-2633del
XM_011518365.3:c.1043_1044del (FANCC) XP_011516667.1:p.Leu348ArgfsTer25
XM_011518366.3:c.1043_1044del (FANCC) XP_011516668.1:p.Leu348ArgfsTer25
XM_011518367.2:c.587_588del (FANCC) XP_011516669.1:p.Leu196ArgfsTer25
XM_011519121.3:c.2320-29868_2320-29867del (AOPEP) XP_011517423.1:n.2320-29868_2320-29867del...
XM_017014452.2:c.587_588del (FANCC) XP_016869941.1:p.Leu196ArgfsTer25
XM_017014453.1:c.587_588del (FANCC) XP_016869942.1:p.Leu196ArgfsTer25
XM_017014454.1:c.422_423del (FANCC) XP_016869943.1:p.Leu141ArgfsTer25
XM_024447451.1:c.1043_1044del (FANCC) XP_024303219.1:p.Leu348ArgfsTer25
NM_000136.3:c.1043_1044del (FANCC) MANE Select NP_000127.2:p.Leu348ArgfsTer25
NM_001243743.2:c.1043_1044del (FANCC) NP_001230672.1:p.Leu348ArgfsTer25
NM_001243744.2:c.1043_1044del (FANCC) NP_001230673.1:p.Leu348ArgfsTer25
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