Canonical Allele Identifier: CA915947020

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 649717
• ClinVar RCV Id: RCV000804708 ; RCV000988203 ; RCV003467405
• dbSNP Id: rs765551897
• gnomAD v4: 9-95111534-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111540del , CM000671.2:g.95111540del	GRCh38
NC_000009.11:g.97873822del , CM000671.1:g.97873822del	GRCh37
NC_000009.10:g.96913643del	NCBI36
NG_011707.1:g.211175del , LRG_497:g.211175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30760del (AOPEP)
ENST00000696260.1:n.2072del (FANCC)
ENST00000289081.8:c.1257del (FANCC) MANE Select	ENSP00000289081.3:p.Thr420ArgfsTer27
ENST00000375305.6:c.1257del (FANCC)	ENSP00000364454.1:p.Thr420ArgfsTer27
ENST00000490972.7:c.1257del (FANCC)	ENSP00000479931.1:p.Thr420ArgfsTer24
ENST00000649334.1:c.1402del (FANCC)	ENSP00000497735.1:n.1402del
ENST00000289081.7:c.1257del (FANCC)	ENSP00000289081.3:p.Thr420ArgfsTer27
ENST00000375305.5:c.1257del (FANCC)	ENSP00000364454.1:p.Thr420ArgfsTer27
ENST00000464627.5:n.584del (FANCC)
ENST00000477942.5:n.612del (FANCC)
ENST00000480712.5:n.442del (FANCC)
ENST00000490972.6:c.1257del (FANCC)	ENSP00000479931.1:p.Thr420ArgfsTer24
NM_000136.2:c.1257del , LRG_497t1:c.1257del (FANCC)	NP_000127.2:p.Thr420ArgfsTer27
NM_001243743.1:c.1257del (FANCC)	NP_001230672.1:p.Thr420ArgfsTer27
NM_001243744.1:c.1257del (FANCC)	NP_001230673.1:p.Thr420ArgfsTer24
XM_005251802.2:c.576del (FANCC)	XP_005251859.1:p.Thr193ArgfsTer27
XM_006717001.1:c.1092del (FANCC)	XP_006717064.1:p.Thr365ArgfsTer27
XM_006717002.2:c.1257del (FANCC)	XP_006717065.1:p.Thr420ArgfsTer?
XM_011518365.1:c.1257del (FANCC)	XP_011516667.1:p.Thr420ArgfsTer27
XM_011518366.1:c.1257del (FANCC)	XP_011516668.1:p.Thr420ArgfsTer?
XM_011518367.1:c.801del (FANCC)	XP_011516669.1:p.Thr268ArgfsTer27
XM_011519121.1:c.2319+30760del (AOPEP)	XP_011517423.1:n.2319+30760del
XM_005251802.3:c.576del (FANCC)	XP_005251859.1:p.Thr193ArgfsTer27
XM_006717001.3:c.1092del (FANCC)	XP_006717064.1:p.Thr365ArgfsTer27
XM_006717002.4:c.1257del (FANCC)	XP_006717065.1:p.Thr420ArgfsTer?
XM_006717004.4:c.*152del (FANCC)	XP_006717067.1:n.*152del
XM_011518365.3:c.1257del (FANCC)	XP_011516667.1:p.Thr420ArgfsTer27
XM_011518366.3:c.1257del (FANCC)	XP_011516668.1:p.Thr420ArgfsTer?
XM_011518367.2:c.801del (FANCC)	XP_011516669.1:p.Thr268ArgfsTer27
XM_011519121.3:c.2319+30760del (AOPEP)	XP_011517423.1:n.2319+30760del
XM_017014452.2:c.801del (FANCC)	XP_016869941.1:p.Thr268ArgfsTer27
XM_017014453.1:c.801del (FANCC)	XP_016869942.1:p.Thr268ArgfsTer27
XM_017014454.1:c.636del (FANCC)	XP_016869943.1:p.Thr213ArgfsTer27
XM_024447451.1:c.1257del (FANCC)	XP_024303219.1:p.Thr420ArgfsTer27
NM_000136.3:c.1257del (FANCC) MANE Select	NP_000127.2:p.Thr420ArgfsTer27
NM_001243743.2:c.1257del (FANCC)	NP_001230672.1:p.Thr420ArgfsTer27
NM_001243744.2:c.1257del (FANCC)	NP_001230673.1:p.Thr420ArgfsTer24