Canonical Allele Identifier: CA2580617443

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2577655
• ClinVar RCV Id: RCV003324992
• gnomAD v4: 9-95111473-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111478_95111479del , CM000671.2:g.95111478_95111479del	GRCh38
NC_000009.11:g.97873760_97873761del , CM000671.1:g.97873760_97873761del	GRCh37
NC_000009.10:g.96913581_96913582del	NCBI36
NG_011707.1:g.211235_211236del , LRG_497:g.211235_211236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30698_410+30699del (AOPEP)
ENST00000696260.1:n.2132_2133del (FANCC)
ENST00000289081.8:c.1317_1318del (FANCC) MANE Select	ENSP00000289081.3:p.Arg439SerfsTer?
ENST00000375305.6:c.1317_1318del (FANCC)	ENSP00000364454.1:p.Arg439SerfsTer?
ENST00000490972.7:c.1317_1318del (FANCC)	ENSP00000479931.1:p.Arg439SerfsTer16
ENST00000649334.1:c.1462_1463del (FANCC)	ENSP00000497735.1:n.1462_1463del
ENST00000289081.7:c.1317_1318del (FANCC)	ENSP00000289081.3:p.Arg439SerfsTer?
ENST00000375305.5:c.1317_1318del (FANCC)	ENSP00000364454.1:p.Arg439SerfsTer?
ENST00000464627.5:n.644_645del (FANCC)
ENST00000477942.5:n.672_673del (FANCC)
ENST00000480712.5:n.502_503del (FANCC)
ENST00000490972.6:c.1317_1318del (FANCC)	ENSP00000479931.1:p.Arg439SerfsTer16
NM_000136.2:c.1317_1318del , LRG_497t1:c.1317_1318del (FANCC)	NP_000127.2:p.Arg439SerfsTer?
NM_001243743.1:c.1317_1318del (FANCC)	NP_001230672.1:p.Arg439SerfsTer?
NM_001243744.1:c.1317_1318del (FANCC)	NP_001230673.1:p.Arg439SerfsTer16
XM_005251802.2:c.636_637del (FANCC)	XP_005251859.1:p.Arg212SerfsTer?
XM_006717001.1:c.1152_1153del (FANCC)	XP_006717064.1:p.Arg384SerfsTer?
XM_006717002.2:c.1317_1318del (FANCC)	XP_006717065.1:p.Arg439SerfsTer?
XM_011518365.1:c.1317_1318del (FANCC)	XP_011516667.1:p.Arg439SerfsTer?
XM_011518366.1:c.1317_1318del (FANCC)	XP_011516668.1:p.Arg439SerfsTer?
XM_011518367.1:c.861_862del (FANCC)	XP_011516669.1:p.Arg287SerfsTer?
XM_011519121.1:c.2319+30698_2319+30699del (AOPEP)	XP_011517423.1:n.2319+30698_2319+30699del
XM_005251802.3:c.636_637del (FANCC)	XP_005251859.1:p.Arg212SerfsTer?
XM_006717001.3:c.1152_1153del (FANCC)	XP_006717064.1:p.Arg384SerfsTer?
XM_006717002.4:c.1317_1318del (FANCC)	XP_006717065.1:p.Arg439SerfsTer?
XM_011518365.3:c.1317_1318del (FANCC)	XP_011516667.1:p.Arg439SerfsTer?
XM_011518366.3:c.1317_1318del (FANCC)	XP_011516668.1:p.Arg439SerfsTer?
XM_011518367.2:c.861_862del (FANCC)	XP_011516669.1:p.Arg287SerfsTer?
XM_011519121.3:c.2319+30698_2319+30699del (AOPEP)	XP_011517423.1:n.2319+30698_2319+30699del
XM_017014452.2:c.861_862del (FANCC)	XP_016869941.1:p.Arg287SerfsTer?
XM_017014453.1:c.861_862del (FANCC)	XP_016869942.1:p.Arg287SerfsTer?
XM_017014454.1:c.696_697del (FANCC)	XP_016869943.1:p.Arg232SerfsTer?
XM_024447451.1:c.1317_1318del (FANCC)	XP_024303219.1:p.Arg439SerfsTer?
NM_000136.3:c.1317_1318del (FANCC) MANE Select	NP_000127.2:p.Arg439SerfsTer?
NM_001243743.2:c.1317_1318del (FANCC)	NP_001230672.1:p.Arg439SerfsTer?
NM_001243744.2:c.1317_1318del (FANCC)	NP_001230673.1:p.Arg439SerfsTer16