Canonical Allele Identifier: CA2690791393

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95135414-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135419dup , CM000671.2:g.95135419dup	GRCh38
NC_000009.11:g.97897701dup , CM000671.1:g.97897701dup	GRCh37
NC_000009.10:g.96937522dup	NCBI36
NG_011707.1:g.187295dup , LRG_497:g.187295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11792dup (AOPEP)
ENST00000696261.1:n.1165dup (FANCC)
ENST00000289081.8:c.774dup (FANCC) MANE Select	ENSP00000289081.3:p.Glu259Ter
ENST00000375305.6:c.774dup (FANCC)	ENSP00000364454.1:p.Glu259Ter
ENST00000490972.7:c.774dup (FANCC)	ENSP00000479931.1:p.Glu259Ter
ENST00000649334.1:c.919dup (FANCC)	ENSP00000497735.1:n.919dup
ENST00000649701.1:n.489dup (FANCC)
ENST00000289081.7:c.774dup (FANCC)	ENSP00000289081.3:p.Glu259Ter
ENST00000375305.5:c.774dup (FANCC)	ENSP00000364454.1:p.Glu259Ter
ENST00000477942.5:n.129dup (FANCC)
ENST00000490972.6:c.774dup (FANCC)	ENSP00000479931.1:p.Glu259Ter
NM_000136.2:c.774dup , LRG_497t1:c.774dup (FANCC)	NP_000127.2:p.Glu259Ter
NM_001243743.1:c.774dup (FANCC)	NP_001230672.1:p.Glu259Ter
NM_001243744.1:c.774dup (FANCC)	NP_001230673.1:p.Glu259Ter
XM_005251802.2:c.93dup (FANCC)	XP_005251859.1:p.Glu32Ter
XM_006717001.1:c.609dup (FANCC)	XP_006717064.1:p.Glu204Ter
XM_006717002.2:c.774dup (FANCC)	XP_006717065.1:p.Glu259Ter
XM_006717004.2:c.774dup (FANCC)	XP_006717067.1:p.Glu259Ter
XM_011518365.1:c.774dup (FANCC)	XP_011516667.1:p.Glu259Ter
XM_011518366.1:c.774dup (FANCC)	XP_011516668.1:p.Glu259Ter
XM_011518367.1:c.318dup (FANCC)	XP_011516669.1:p.Glu107Ter
XM_011519121.1:c.2320-11792dup (AOPEP)	XP_011517423.1:n.2320-11792dup
XM_005251802.3:c.93dup (FANCC)	XP_005251859.1:p.Glu32Ter
XM_006717001.3:c.609dup (FANCC)	XP_006717064.1:p.Glu204Ter
XM_006717002.4:c.774dup (FANCC)	XP_006717065.1:p.Glu259Ter
XM_006717004.4:c.774dup (FANCC)	XP_006717067.1:p.Glu259Ter
XM_011518365.3:c.774dup (FANCC)	XP_011516667.1:p.Glu259Ter
XM_011518366.3:c.774dup (FANCC)	XP_011516668.1:p.Glu259Ter
XM_011518367.2:c.318dup (FANCC)	XP_011516669.1:p.Glu107Ter
XM_011519121.3:c.2320-11792dup (AOPEP)	XP_011517423.1:n.2320-11792dup
XM_017014452.2:c.318dup (FANCC)	XP_016869941.1:p.Glu107Ter
XM_017014453.1:c.318dup (FANCC)	XP_016869942.1:p.Glu107Ter
XM_017014454.1:c.153dup (FANCC)	XP_016869943.1:p.Glu52Ter
XM_024447451.1:c.774dup (FANCC)	XP_024303219.1:p.Glu259Ter
NM_000136.3:c.774dup (FANCC) MANE Select	NP_000127.2:p.Glu259Ter
NM_001243743.2:c.774dup (FANCC)	NP_001230672.1:p.Glu259Ter
NM_001243744.2:c.774dup (FANCC)	NP_001230673.1:p.Glu259Ter