Canonical Allele Identifier: CA2690788012

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95106928-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95106928_95106929insGG , CM000671.2:g.95106928_95106929insGG	GRCh38
NC_000009.11:g.97869210_97869211insGG , CM000671.1:g.97869210_97869211insGG	GRCh37
NC_000009.10:g.96909031_96909032insGG	NCBI36
NG_011707.1:g.215781_215782insCC , LRG_497:g.215781_215782insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26148_410+26149insGG (AOPEP)
ENST00000696260.1:n.2348+137_2348+138insCC (FANCC)
ENST00000289081.8:c.1533+137_1533+138insCC (FANCC) MANE Select	ENSP00000289081.3:n.1533+137_1533+138insCC
ENST00000375305.6:c.1533+137_1533+138insCC (FANCC)	ENSP00000364454.1:n.1533+137_1533+138insCC
ENST00000649334.1:c.1678+137_1678+138insCC (FANCC)	ENSP00000497735.1:n.1678+137_1678+138insCC
ENST00000289081.7:c.1533+137_1533+138insCC (FANCC)	ENSP00000289081.3:n.1533+137_1533+138insCC
ENST00000375305.5:c.1533+137_1533+138insCC (FANCC)	ENSP00000364454.1:n.1533+137_1533+138insCC
NM_000136.2:c.1533+137_1533+138insCC , LRG_497t1:c.1533+137_1533+138insCC (FANCC)	NP_000127.2:n.1533+137_1533+138insCC
NM_001243743.1:c.1533+137_1533+138insCC (FANCC)	NP_001230672.1:n.1533+137_1533+138insCC
XM_005251802.2:c.852+137_852+138insCC (FANCC)	XP_005251859.1:n.852+137_852+138insCC
XM_006717001.1:c.1368+137_1368+138insCC (FANCC)	XP_006717064.1:n.1368+137_1368+138insCC
XM_011518365.1:c.1533+137_1533+138insCC (FANCC)	XP_011516667.1:n.1533+137_1533+138insCC
XM_011518367.1:c.1077+137_1077+138insCC (FANCC)	XP_011516669.1:n.1077+137_1077+138insCC
XM_011519121.1:c.2319+26148_2319+26149insGG (AOPEP)	XP_011517423.1:n.2319+26148_2319+26149insGG
XM_005251802.3:c.852+137_852+138insCC (FANCC)	XP_005251859.1:n.852+137_852+138insCC
XM_006717001.3:c.1368+137_1368+138insCC (FANCC)	XP_006717064.1:n.1368+137_1368+138insCC
XM_011518365.3:c.1533+137_1533+138insCC (FANCC)	XP_011516667.1:n.1533+137_1533+138insCC
XM_011518367.2:c.1077+137_1077+138insCC (FANCC)	XP_011516669.1:n.1077+137_1077+138insCC
XM_011519121.3:c.2319+26148_2319+26149insGG (AOPEP)	XP_011517423.1:n.2319+26148_2319+26149insGG
XM_017014452.2:c.1077+137_1077+138insCC (FANCC)	XP_016869941.1:n.1077+137_1077+138insCC
XM_017014453.1:c.1077+137_1077+138insCC (FANCC)	XP_016869942.1:n.1077+137_1077+138insCC
XM_017014454.1:c.912+137_912+138insCC (FANCC)	XP_016869943.1:n.912+137_912+138insCC
XM_024447451.1:c.1533+137_1533+138insCC (FANCC)	XP_024303219.1:n.1533+137_1533+138insCC
XR_001746847.1:n.346_347insGG
NM_000136.3:c.1533+137_1533+138insCC (FANCC) MANE Select	NP_000127.2:n.1533+137_1533+138insCC
NM_001243743.2:c.1533+137_1533+138insCC (FANCC)	NP_001230672.1:n.1533+137_1533+138insCC