Canonical Allele Identifier: CA2690791363

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95135388-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135390_95135391del , CM000671.2:g.95135390_95135391del	GRCh38
NC_000009.11:g.97897672_97897673del , CM000671.1:g.97897672_97897673del	GRCh37
NC_000009.10:g.96937493_96937494del	NCBI36
NG_011707.1:g.187320_187321del , LRG_497:g.187320_187321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11821_411-11820del (AOPEP)
ENST00000696261.1:n.1190_1191del (FANCC)
ENST00000289081.8:c.799_800del (FANCC) MANE Select	ENSP00000289081.3:p.Asn267LeufsTer28
ENST00000375305.6:c.799_800del (FANCC)	ENSP00000364454.1:p.Asn267LeufsTer28
ENST00000490972.7:c.799_800del (FANCC)	ENSP00000479931.1:p.Asn267LeufsTer28
ENST00000649334.1:c.944_945del (FANCC)	ENSP00000497735.1:n.944_945del
ENST00000649701.1:n.514_515del (FANCC)
ENST00000289081.7:c.799_800del (FANCC)	ENSP00000289081.3:p.Asn267LeufsTer28
ENST00000375305.5:c.799_800del (FANCC)	ENSP00000364454.1:p.Asn267LeufsTer28
ENST00000477942.5:n.154_155del (FANCC)
ENST00000490972.6:c.799_800del (FANCC)	ENSP00000479931.1:p.Asn267LeufsTer28
NM_000136.2:c.799_800del , LRG_497t1:c.799_800del (FANCC)	NP_000127.2:p.Asn267LeufsTer28
NM_001243743.1:c.799_800del (FANCC)	NP_001230672.1:p.Asn267LeufsTer28
NM_001243744.1:c.799_800del (FANCC)	NP_001230673.1:p.Asn267LeufsTer28
XM_005251802.2:c.118_119del (FANCC)	XP_005251859.1:p.Asn40LeufsTer28
XM_006717001.1:c.634_635del (FANCC)	XP_006717064.1:p.Asn212LeufsTer28
XM_006717002.2:c.799_800del (FANCC)	XP_006717065.1:p.Asn267LeufsTer28
XM_006717004.2:c.799_800del (FANCC)	XP_006717067.1:p.Asn267LeufsTer28
XM_011518365.1:c.799_800del (FANCC)	XP_011516667.1:p.Asn267LeufsTer28
XM_011518366.1:c.799_800del (FANCC)	XP_011516668.1:p.Asn267LeufsTer28
XM_011518367.1:c.343_344del (FANCC)	XP_011516669.1:p.Asn115LeufsTer28
XM_011519121.1:c.2320-11821_2320-11820del (AOPEP)	XP_011517423.1:n.2320-11821_2320-11820del
XM_005251802.3:c.118_119del (FANCC)	XP_005251859.1:p.Asn40LeufsTer28
XM_006717001.3:c.634_635del (FANCC)	XP_006717064.1:p.Asn212LeufsTer28
XM_006717002.4:c.799_800del (FANCC)	XP_006717065.1:p.Asn267LeufsTer28
XM_006717004.4:c.799_800del (FANCC)	XP_006717067.1:p.Asn267LeufsTer28
XM_011518365.3:c.799_800del (FANCC)	XP_011516667.1:p.Asn267LeufsTer28
XM_011518366.3:c.799_800del (FANCC)	XP_011516668.1:p.Asn267LeufsTer28
XM_011518367.2:c.343_344del (FANCC)	XP_011516669.1:p.Asn115LeufsTer28
XM_011519121.3:c.2320-11821_2320-11820del (AOPEP)	XP_011517423.1:n.2320-11821_2320-11820del
XM_017014452.2:c.343_344del (FANCC)	XP_016869941.1:p.Asn115LeufsTer28
XM_017014453.1:c.343_344del (FANCC)	XP_016869942.1:p.Asn115LeufsTer28
XM_017014454.1:c.178_179del (FANCC)	XP_016869943.1:p.Asn60LeufsTer28
XM_024447451.1:c.799_800del (FANCC)	XP_024303219.1:p.Asn267LeufsTer28
NM_000136.3:c.799_800del (FANCC) MANE Select	NP_000127.2:p.Asn267LeufsTer28
NM_001243743.2:c.799_800del (FANCC)	NP_001230672.1:p.Asn267LeufsTer28
NM_001243744.2:c.799_800del (FANCC)	NP_001230673.1:p.Asn267LeufsTer28