Canonical Allele Identifier: CA2580080846

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2105158
• ClinVar RCV Id: RCV003023315

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107248_95107249del , CM000671.2:g.95107248_95107249del	GRCh38
NC_000009.11:g.97869530_97869531del , CM000671.1:g.97869530_97869531del	GRCh37
NC_000009.10:g.96909351_96909352del	NCBI36
NG_011707.1:g.215462_215463del , LRG_497:g.215462_215463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26468_410+26469del (AOPEP)
ENST00000696260.1:n.2166_2167del (FANCC)
ENST00000289081.8:c.1351_1352del (FANCC) MANE Select	ENSP00000289081.3:p.Gly451ProfsTer?
ENST00000375305.6:c.1351_1352del (FANCC)	ENSP00000364454.1:p.Gly451ProfsTer?
ENST00000649334.1:c.1496_1497del (FANCC)	ENSP00000497735.1:n.1496_1497del
ENST00000289081.7:c.1351_1352del (FANCC)	ENSP00000289081.3:p.Gly451ProfsTer?
ENST00000375305.5:c.1351_1352del (FANCC)	ENSP00000364454.1:p.Gly451ProfsTer?
ENST00000464627.5:n.678_679del (FANCC)
NM_000136.2:c.1351_1352del , LRG_497t1:c.1351_1352del (FANCC)	NP_000127.2:p.Gly451ProfsTer?
NM_001243743.1:c.1351_1352del (FANCC)	NP_001230672.1:p.Gly451ProfsTer?
XM_005251802.2:c.670_671del (FANCC)	XP_005251859.1:p.Gly224ProfsTer?
XM_006717001.1:c.1186_1187del (FANCC)	XP_006717064.1:p.Gly396ProfsTer?
XM_011518365.1:c.1351_1352del (FANCC)	XP_011516667.1:p.Gly451ProfsTer?
XM_011518367.1:c.895_896del (FANCC)	XP_011516669.1:p.Gly299ProfsTer?
XM_011519121.1:c.2319+26468_2319+26469del (AOPEP)	XP_011517423.1:n.2319+26468_2319+26469del
XM_005251802.3:c.670_671del (FANCC)	XP_005251859.1:p.Gly224ProfsTer?
XM_006717001.3:c.1186_1187del (FANCC)	XP_006717064.1:p.Gly396ProfsTer?
XM_011518365.3:c.1351_1352del (FANCC)	XP_011516667.1:p.Gly451ProfsTer?
XM_011518367.2:c.895_896del (FANCC)	XP_011516669.1:p.Gly299ProfsTer?
XM_011519121.3:c.2319+26468_2319+26469del (AOPEP)	XP_011517423.1:n.2319+26468_2319+26469del
XM_017014452.2:c.895_896del (FANCC)	XP_016869941.1:p.Gly299ProfsTer?
XM_017014453.1:c.895_896del (FANCC)	XP_016869942.1:p.Gly299ProfsTer?
XM_017014454.1:c.730_731del (FANCC)	XP_016869943.1:p.Gly244ProfsTer?
XM_024447451.1:c.1351_1352del (FANCC)	XP_024303219.1:p.Gly451ProfsTer?
XR_001746847.1:n.666_667del
NM_000136.3:c.1351_1352del (FANCC) MANE Select	NP_000127.2:p.Gly451ProfsTer?
NM_001243743.2:c.1351_1352del (FANCC)	NP_001230672.1:p.Gly451ProfsTer?