Canonical Allele Identifier: CA915947014

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 650670
• ClinVar RCV Id: RCV000805863
• dbSNP Id: rs1588007941
• gnomAD v4: 9-95101725-C-CTCTTTAAGGAGCTCTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101726_95101743dup , CM000671.2:g.95101726_95101743dup	GRCh38
NC_000009.11:g.97864008_97864025dup , CM000671.1:g.97864008_97864025dup	GRCh37
NC_000009.10:g.96903829_96903846dup	NCBI36
NG_011707.1:g.220967_220984dup , LRG_497:g.220967_220984dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+20946_410+20963dup (AOPEP)
ENST00000696260.1:n.2456_2473dup (FANCC)
ENST00000289081.8:c.1641_1658dup (FANCC) MANE Select	ENSP00000289081.3:p.Lys552_Glu553insAspArgGluLeuLeuLys
ENST00000375305.6:c.1641_1658dup (FANCC)	ENSP00000364454.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
ENST00000649334.1:c.1786_1803dup (FANCC)	ENSP00000497735.1:n.1786_1803dup
ENST00000289081.7:c.1641_1658dup (FANCC)	ENSP00000289081.3:p.Lys552_Glu553insAspArgGluLeuLeuLys
ENST00000375305.5:c.1641_1658dup (FANCC)	ENSP00000364454.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
NM_000136.2:c.1641_1658dup , LRG_497t1:c.1641_1658dup (FANCC)	NP_000127.2:p.Lys552_Glu553insAspArgGluLeuLeuLys
NM_001243743.1:c.1641_1658dup (FANCC)	NP_001230672.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
XM_005251802.2:c.960_977dup (FANCC)	XP_005251859.1:p.Lys325_Glu326insAspArgGluLeuLeuLys
XM_006717001.1:c.1476_1493dup (FANCC)	XP_006717064.1:p.Lys497_Glu498insAspArgGluLeuLeuLys
XM_011518365.1:c.1641_1658dup (FANCC)	XP_011516667.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
XM_011518367.1:c.1185_1202dup (FANCC)	XP_011516669.1:p.Lys400_Glu401insAspArgGluLeuLeuLys
XM_011519121.1:c.2319+20946_2319+20963dup (AOPEP)	XP_011517423.1:n.2319+20946_2319+20963dup
XM_005251802.3:c.960_977dup (FANCC)	XP_005251859.1:p.Lys325_Glu326insAspArgGluLeuLeuLys
XM_006717001.3:c.1476_1493dup (FANCC)	XP_006717064.1:p.Lys497_Glu498insAspArgGluLeuLeuLys
XM_011518365.3:c.1641_1658dup (FANCC)	XP_011516667.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
XM_011518367.2:c.1185_1202dup (FANCC)	XP_011516669.1:p.Lys400_Glu401insAspArgGluLeuLeuLys
XM_011519121.3:c.2319+20946_2319+20963dup (AOPEP)	XP_011517423.1:n.2319+20946_2319+20963dup
XM_017014452.2:c.1185_1202dup (FANCC)	XP_016869941.1:p.Lys400_Glu401insAspArgGluLeuLeuLys
XM_017014453.1:c.1185_1202dup (FANCC)	XP_016869942.1:p.Lys400_Glu401insAspArgGluLeuLeuLys
XM_017014454.1:c.1020_1037dup (FANCC)	XP_016869943.1:p.Lys345_Glu346insAspArgGluLeuLeuLys
XM_024447451.1:c.1641_1658dup (FANCC)	XP_024303219.1:p.Lys552_Glu553insAspArgGluLeuLeuLys
NM_000136.3:c.1641_1658dup (FANCC) MANE Select	NP_000127.2:p.Lys552_Glu553insAspArgGluLeuLeuLys
NM_001243743.2:c.1641_1658dup (FANCC)	NP_001230672.1:p.Lys552_Glu553insAspArgGluLeuLeuLys