Canonical Allele Identifier: CA2690789443

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111563-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111564del , CM000671.2:g.95111564del	GRCh38
NC_000009.11:g.97873846del , CM000671.1:g.97873846del	GRCh37
NC_000009.10:g.96913667del	NCBI36
NG_011707.1:g.211146del , LRG_497:g.211146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30784del (AOPEP)
ENST00000696260.1:n.2043del (FANCC)
ENST00000289081.8:c.1228del (FANCC) MANE Select	ENSP00000289081.3:p.Gln410AsnfsTer3
ENST00000375305.6:c.1228del (FANCC)	ENSP00000364454.1:p.Gln410AsnfsTer3
ENST00000490972.7:c.1228del (FANCC)	ENSP00000479931.1:p.Gln410AsnfsTer3
ENST00000649334.1:c.1373del (FANCC)	ENSP00000497735.1:n.1373del
ENST00000289081.7:c.1228del (FANCC)	ENSP00000289081.3:p.Gln410AsnfsTer3
ENST00000375305.5:c.1228del (FANCC)	ENSP00000364454.1:p.Gln410AsnfsTer3
ENST00000464627.5:n.555del (FANCC)
ENST00000477942.5:n.583del (FANCC)
ENST00000480712.5:n.413del (FANCC)
ENST00000490972.6:c.1228del (FANCC)	ENSP00000479931.1:p.Gln410AsnfsTer3
NM_000136.2:c.1228del , LRG_497t1:c.1228del (FANCC)	NP_000127.2:p.Gln410AsnfsTer3
NM_001243743.1:c.1228del (FANCC)	NP_001230672.1:p.Gln410AsnfsTer3
NM_001243744.1:c.1228del (FANCC)	NP_001230673.1:p.Gln410AsnfsTer3
XM_005251802.2:c.547del (FANCC)	XP_005251859.1:p.Gln183AsnfsTer3
XM_006717001.1:c.1063del (FANCC)	XP_006717064.1:p.Gln355AsnfsTer3
XM_006717002.2:c.1228del (FANCC)	XP_006717065.1:p.Gln410AsnfsTer3
XM_006717004.2:c.*123del (FANCC)	XP_006717067.1:n.*123del
XM_011518365.1:c.1228del (FANCC)	XP_011516667.1:p.Gln410AsnfsTer3
XM_011518366.1:c.1228del (FANCC)	XP_011516668.1:p.Gln410AsnfsTer3
XM_011518367.1:c.772del (FANCC)	XP_011516669.1:p.Gln258AsnfsTer3
XM_011519121.1:c.2319+30784del (AOPEP)	XP_011517423.1:n.2319+30784del
XM_005251802.3:c.547del (FANCC)	XP_005251859.1:p.Gln183AsnfsTer3
XM_006717001.3:c.1063del (FANCC)	XP_006717064.1:p.Gln355AsnfsTer3
XM_006717002.4:c.1228del (FANCC)	XP_006717065.1:p.Gln410AsnfsTer3
XM_006717004.4:c.*123del (FANCC)	XP_006717067.1:n.*123del
XM_011518365.3:c.1228del (FANCC)	XP_011516667.1:p.Gln410AsnfsTer3
XM_011518366.3:c.1228del (FANCC)	XP_011516668.1:p.Gln410AsnfsTer3
XM_011518367.2:c.772del (FANCC)	XP_011516669.1:p.Gln258AsnfsTer3
XM_011519121.3:c.2319+30784del (AOPEP)	XP_011517423.1:n.2319+30784del
XM_017014452.2:c.772del (FANCC)	XP_016869941.1:p.Gln258AsnfsTer3
XM_017014453.1:c.772del (FANCC)	XP_016869942.1:p.Gln258AsnfsTer3
XM_017014454.1:c.607del (FANCC)	XP_016869943.1:p.Gln203AsnfsTer3
XM_024447451.1:c.1228del (FANCC)	XP_024303219.1:p.Gln410AsnfsTer3
NM_000136.3:c.1228del (FANCC) MANE Select	NP_000127.2:p.Gln410AsnfsTer3
NM_001243743.2:c.1228del (FANCC)	NP_001230672.1:p.Gln410AsnfsTer3
NM_001243744.2:c.1228del (FANCC)	NP_001230673.1:p.Gln410AsnfsTer3