Canonical Allele Identifier: CA2690789916

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95114696-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114697del , CM000671.2:g.95114697del	GRCh38
NC_000009.11:g.97876979del , CM000671.1:g.97876979del	GRCh37
NC_000009.10:g.96916800del	NCBI36
NG_011707.1:g.208013del , LRG_497:g.208013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-32514del (AOPEP)
ENST00000289081.8:c.1086del (FANCC) MANE Select	ENSP00000289081.3:p.His363ThrfsTer6
ENST00000375305.6:c.1086del (FANCC)	ENSP00000364454.1:p.His363ThrfsTer6
ENST00000490972.7:c.1086del (FANCC)	ENSP00000479931.1:p.His363ThrfsTer6
ENST00000649334.1:c.1231del (FANCC)	ENSP00000497735.1:n.1231del
ENST00000289081.7:c.1086del (FANCC)	ENSP00000289081.3:p.His363ThrfsTer6
ENST00000375305.5:c.1086del (FANCC)	ENSP00000364454.1:p.His363ThrfsTer6
ENST00000464627.5:n.413del (FANCC)
ENST00000464653.1:n.1082del (FANCC)
ENST00000477942.5:n.441del (FANCC)
ENST00000480712.5:n.271del (FANCC)
ENST00000490972.6:c.1086del (FANCC)	ENSP00000479931.1:p.His363ThrfsTer6
NM_000136.2:c.1086del , LRG_497t1:c.1086del (FANCC)	NP_000127.2:p.His363ThrfsTer6
NM_001243743.1:c.1086del (FANCC)	NP_001230672.1:p.His363ThrfsTer6
NM_001243744.1:c.1086del (FANCC)	NP_001230673.1:p.His363ThrfsTer6
XM_005251802.2:c.405del (FANCC)	XP_005251859.1:p.His136ThrfsTer6
XM_006717001.1:c.921del (FANCC)	XP_006717064.1:p.His308ThrfsTer6
XM_006717002.2:c.1086del (FANCC)	XP_006717065.1:p.His363ThrfsTer6
XM_006717004.2:c.1010del (FANCC)	XP_006717067.1:p.Asp337AlafsTer11
XM_011518365.1:c.1086del (FANCC)	XP_011516667.1:p.His363ThrfsTer6
XM_011518366.1:c.1086del (FANCC)	XP_011516668.1:p.His363ThrfsTer6
XM_011518367.1:c.630del (FANCC)	XP_011516669.1:p.His211ThrfsTer6
XM_011519121.1:c.2320-32514del (AOPEP)	XP_011517423.1:n.2320-32514del
XM_005251802.3:c.405del (FANCC)	XP_005251859.1:p.His136ThrfsTer6
XM_006717001.3:c.921del (FANCC)	XP_006717064.1:p.His308ThrfsTer6
XM_006717002.4:c.1086del (FANCC)	XP_006717065.1:p.His363ThrfsTer6
XM_006717004.4:c.1010del (FANCC)	XP_006717067.1:p.Asp337AlafsTer11
XM_011518365.3:c.1086del (FANCC)	XP_011516667.1:p.His363ThrfsTer6
XM_011518366.3:c.1086del (FANCC)	XP_011516668.1:p.His363ThrfsTer6
XM_011518367.2:c.630del (FANCC)	XP_011516669.1:p.His211ThrfsTer6
XM_011519121.3:c.2320-32514del (AOPEP)	XP_011517423.1:n.2320-32514del
XM_017014452.2:c.630del (FANCC)	XP_016869941.1:p.His211ThrfsTer6
XM_017014453.1:c.630del (FANCC)	XP_016869942.1:p.His211ThrfsTer6
XM_017014454.1:c.465del (FANCC)	XP_016869943.1:p.His156ThrfsTer6
XM_024447451.1:c.1086del (FANCC)	XP_024303219.1:p.His363ThrfsTer6
NM_000136.3:c.1086del (FANCC) MANE Select	NP_000127.2:p.His363ThrfsTer6
NM_001243743.2:c.1086del (FANCC)	NP_001230672.1:p.His363ThrfsTer6
NM_001243744.2:c.1086del (FANCC)	NP_001230673.1:p.His363ThrfsTer6