Canonical Allele Identifier: CA1126979040

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs1830058319
• gnomAD v3: 9-95149941-A-ACAGCCT
• gnomAD v4: 9-95149941-A-ACAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95149944_95149949dup , CM000671.2:g.95149944_95149949dup	GRCh38
NC_000009.11:g.97912226_97912231dup , CM000671.1:g.97912226_97912231dup	GRCh37
NC_000009.10:g.96952047_96952052dup	NCBI36
NG_011707.1:g.172763_172768dup , LRG_497:g.172763_172768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.3144_3149dup (AOPEP)
ENST00000696261.1:n.1053_1058dup (FANCC)
ENST00000289081.8:c.662_667dup (FANCC) MANE Select	ENSP00000289081.3:p.Ala222_Val223insGluAla
ENST00000375305.6:c.662_667dup (FANCC)	ENSP00000364454.1:p.Ala222_Val223insGluAla
ENST00000490972.7:c.662_667dup (FANCC)	ENSP00000479931.1:p.Ala222_Val223insGluAla
ENST00000649334.1:c.807_812dup (FANCC)	ENSP00000497735.1:n.807_812dup
ENST00000649701.1:n.377_382dup (FANCC)
ENST00000289081.7:c.662_667dup (FANCC)	ENSP00000289081.3:p.Ala222_Val223insGluAla
ENST00000375305.5:c.662_667dup (FANCC)	ENSP00000364454.1:p.Ala222_Val223insGluAla
ENST00000490972.6:c.662_667dup (FANCC)	ENSP00000479931.1:p.Ala222_Val223insGluAla
ENST00000493098.1:n.87_92dup (FANCC)
NM_000136.2:c.662_667dup , LRG_497t1:c.662_667dup (FANCC)	NP_000127.2:p.Ala222_Val223insGluAla
NM_001243743.1:c.662_667dup (FANCC)	NP_001230672.1:p.Ala222_Val223insGluAla
NM_001243744.1:c.662_667dup (FANCC)	NP_001230673.1:p.Ala222_Val223insGluAla
XM_006717001.1:c.522-14445_522-14440dup (FANCC)	XP_006717064.1:n.522-14445_522-14440dup
XM_006717002.2:c.662_667dup (FANCC)	XP_006717065.1:p.Ala222_Val223insGluAla
XM_006717004.2:c.662_667dup (FANCC)	XP_006717067.1:p.Ala222_Val223insGluAla
XM_011518365.1:c.662_667dup (FANCC)	XP_011516667.1:p.Ala222_Val223insGluAla
XM_011518366.1:c.662_667dup (FANCC)	XP_011516668.1:p.Ala222_Val223insGluAla
XM_011518367.1:c.206_211dup (FANCC)	XP_011516669.1:p.Ala70_Val71insGluAla
XM_006717001.3:c.522-14445_522-14440dup (FANCC)	XP_006717064.1:n.522-14445_522-14440dup
XM_006717002.4:c.662_667dup (FANCC)	XP_006717065.1:p.Ala222_Val223insGluAla
XM_006717004.4:c.662_667dup (FANCC)	XP_006717067.1:p.Ala222_Val223insGluAla
XM_011518365.3:c.662_667dup (FANCC)	XP_011516667.1:p.Ala222_Val223insGluAla
XM_011518366.3:c.662_667dup (FANCC)	XP_011516668.1:p.Ala222_Val223insGluAla
XM_011518367.2:c.206_211dup (FANCC)	XP_011516669.1:p.Ala70_Val71insGluAla
XM_017014452.2:c.206_211dup (FANCC)	XP_016869941.1:p.Ala70_Val71insGluAla
XM_017014453.1:c.206_211dup (FANCC)	XP_016869942.1:p.Ala70_Val71insGluAla
XM_017014454.1:c.66-14445_66-14440dup (FANCC)	XP_016869943.1:n.66-14445_66-14440dup
XM_024447451.1:c.662_667dup (FANCC)	XP_024303219.1:p.Ala222_Val223insGluAla
NM_000136.3:c.662_667dup (FANCC) MANE Select	NP_000127.2:p.Ala222_Val223insGluAla
NM_001243743.2:c.662_667dup (FANCC)	NP_001230672.1:p.Ala222_Val223insGluAla
NM_001243744.2:c.662_667dup (FANCC)	NP_001230673.1:p.Ala222_Val223insGluAla