Canonical Allele Identifier: CA2580080692

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1726201
• ClinVar RCV Id: RCV002307172

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95150049del , CM000671.2:g.95150049del	GRCh38
NC_000009.11:g.97912331del , CM000671.1:g.97912331del	GRCh37
NC_000009.10:g.96952152del	NCBI36
NG_011707.1:g.172661del , LRG_497:g.172661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.3249del (AOPEP)
ENST00000696261.1:n.951del (FANCC)
ENST00000289081.8:c.560del (FANCC) MANE Select	ENSP00000289081.3:p.Cys187LeufsTer7
ENST00000375305.6:c.560del (FANCC)	ENSP00000364454.1:p.Cys187LeufsTer7
ENST00000490972.7:c.560del (FANCC)	ENSP00000479931.1:p.Cys187LeufsTer7
ENST00000636777.1:n.618del (FANCC)
ENST00000649334.1:c.705del (FANCC)	ENSP00000497735.1:n.705del
ENST00000649701.1:n.275del (FANCC)
ENST00000289081.7:c.560del (FANCC)	ENSP00000289081.3:p.Cys187LeufsTer7
ENST00000375305.5:c.560del (FANCC)	ENSP00000364454.1:p.Cys187LeufsTer7
ENST00000490972.6:c.560del (FANCC)	ENSP00000479931.1:p.Cys187LeufsTer7
NM_000136.2:c.560del , LRG_497t1:c.560del (FANCC)	NP_000127.2:p.Cys187LeufsTer7
NM_001243743.1:c.560del (FANCC)	NP_001230672.1:p.Cys187LeufsTer7
NM_001243744.1:c.560del (FANCC)	NP_001230673.1:p.Cys187LeufsTer7
XM_006717001.1:c.522-14547del (FANCC)	XP_006717064.1:n.522-14547del
XM_006717002.2:c.560del (FANCC)	XP_006717065.1:p.Cys187LeufsTer7
XM_006717004.2:c.560del (FANCC)	XP_006717067.1:p.Cys187LeufsTer7
XM_011518365.1:c.560del (FANCC)	XP_011516667.1:p.Cys187LeufsTer7
XM_011518366.1:c.560del (FANCC)	XP_011516668.1:p.Cys187LeufsTer7
XM_011518367.1:c.104del (FANCC)	XP_011516669.1:p.Cys35LeufsTer7
XM_006717001.3:c.522-14547del (FANCC)	XP_006717064.1:n.522-14547del
XM_006717002.4:c.560del (FANCC)	XP_006717065.1:p.Cys187LeufsTer7
XM_006717004.4:c.560del (FANCC)	XP_006717067.1:p.Cys187LeufsTer7
XM_011518365.3:c.560del (FANCC)	XP_011516667.1:p.Cys187LeufsTer7
XM_011518366.3:c.560del (FANCC)	XP_011516668.1:p.Cys187LeufsTer7
XM_011518367.2:c.104del (FANCC)	XP_011516669.1:p.Cys35LeufsTer7
XM_017014452.2:c.104del (FANCC)	XP_016869941.1:p.Cys35LeufsTer7
XM_017014453.1:c.104del (FANCC)	XP_016869942.1:p.Cys35LeufsTer7
XM_017014454.1:c.66-14547del (FANCC)	XP_016869943.1:n.66-14547del
XM_024447451.1:c.560del (FANCC)	XP_024303219.1:p.Cys187LeufsTer7
NM_000136.3:c.560del (FANCC) MANE Select	NP_000127.2:p.Cys187LeufsTer7
NM_001243743.2:c.560del (FANCC)	NP_001230672.1:p.Cys187LeufsTer7
NM_001243744.2:c.560del (FANCC)	NP_001230673.1:p.Cys187LeufsTer7