Canonical Allele Identifier: CA2690790575

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs2134921669
• gnomAD v4: 9-95125086-CTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95125096_95125099del , CM000671.2:g.95125096_95125099del	GRCh38
NC_000009.11:g.97887378_97887381del , CM000671.1:g.97887378_97887381del	GRCh37
NC_000009.10:g.96927199_96927202del	NCBI36
NG_011707.1:g.197620_197623del , LRG_497:g.197620_197623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-22115_411-22112del (AOPEP)
ENST00000289081.8:c.992_995del (FANCC) MANE Select	ENSP00000289081.3:p.Lys331SerfsTer?
ENST00000375305.6:c.992_995del (FANCC)	ENSP00000364454.1:p.Lys331SerfsTer?
ENST00000490972.7:c.992_995del (FANCC)	ENSP00000479931.1:p.Lys331SerfsTer?
ENST00000649334.1:c.1137_1140del (FANCC)	ENSP00000497735.1:n.1137_1140del
ENST00000289081.7:c.992_995del (FANCC)	ENSP00000289081.3:p.Lys331SerfsTer?
ENST00000375305.5:c.992_995del (FANCC)	ENSP00000364454.1:p.Lys331SerfsTer?
ENST00000464627.5:n.319_322del (FANCC)
ENST00000464653.1:n.988_991del (FANCC)
ENST00000477942.5:n.347_350del (FANCC)
ENST00000480712.5:n.177_180del (FANCC)
ENST00000490972.6:c.992_995del (FANCC)	ENSP00000479931.1:p.Lys331SerfsTer?
NM_000136.2:c.992_995del , LRG_497t1:c.992_995del (FANCC)	NP_000127.2:p.Lys331SerfsTer?
NM_001243743.1:c.992_995del (FANCC)	NP_001230672.1:p.Lys331SerfsTer?
NM_001243744.1:c.992_995del (FANCC)	NP_001230673.1:p.Lys331SerfsTer?
XM_005251802.2:c.311_314del (FANCC)	XP_005251859.1:p.Lys104SerfsTer?
XM_006717001.1:c.827_830del (FANCC)	XP_006717064.1:p.Lys276SerfsTer?
XM_006717002.2:c.992_995del (FANCC)	XP_006717065.1:p.Lys331SerfsTer?
XM_006717004.2:c.992_995del (FANCC)	XP_006717067.1:p.Lys331ArgfsTer16
XM_011518365.1:c.992_995del (FANCC)	XP_011516667.1:p.Lys331SerfsTer?
XM_011518366.1:c.992_995del (FANCC)	XP_011516668.1:p.Lys331SerfsTer?
XM_011518367.1:c.536_539del (FANCC)	XP_011516669.1:p.Lys179SerfsTer?
XM_011519121.1:c.2320-22115_2320-22112del (AOPEP)	XP_011517423.1:n.2320-22115_2320-22112del
XM_005251802.3:c.311_314del (FANCC)	XP_005251859.1:p.Lys104SerfsTer?
XM_006717001.3:c.827_830del (FANCC)	XP_006717064.1:p.Lys276SerfsTer?
XM_006717002.4:c.992_995del (FANCC)	XP_006717065.1:p.Lys331SerfsTer?
XM_006717004.4:c.992_995del (FANCC)	XP_006717067.1:p.Lys331ArgfsTer16
XM_011518365.3:c.992_995del (FANCC)	XP_011516667.1:p.Lys331SerfsTer?
XM_011518366.3:c.992_995del (FANCC)	XP_011516668.1:p.Lys331SerfsTer?
XM_011518367.2:c.536_539del (FANCC)	XP_011516669.1:p.Lys179SerfsTer?
XM_011519121.3:c.2320-22115_2320-22112del (AOPEP)	XP_011517423.1:n.2320-22115_2320-22112del
XM_017014452.2:c.536_539del (FANCC)	XP_016869941.1:p.Lys179SerfsTer?
XM_017014453.1:c.536_539del (FANCC)	XP_016869942.1:p.Lys179SerfsTer?
XM_017014454.1:c.371_374del (FANCC)	XP_016869943.1:p.Lys124SerfsTer?
XM_024447451.1:c.992_995del (FANCC)	XP_024303219.1:p.Lys331SerfsTer?
NM_000136.3:c.992_995del (FANCC) MANE Select	NP_000127.2:p.Lys331SerfsTer?
NM_001243743.2:c.992_995del (FANCC)	NP_001230672.1:p.Lys331SerfsTer?
NM_001243744.2:c.992_995del (FANCC)	NP_001230673.1:p.Lys331SerfsTer?