Canonical Allele Identifier: CA915947017

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 654075
• ClinVar RCV Id: RCV000809967 ; RCV001010741 ; RCV001273984
• dbSNP Id: rs1588047930
• gnomAD v4: 9-95111506-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111509_95111511del , CM000671.2:g.95111509_95111511del	GRCh38
NC_000009.11:g.97873791_97873793del , CM000671.1:g.97873791_97873793del	GRCh37
NC_000009.10:g.96913612_96913614del	NCBI36
NG_011707.1:g.211201_211203del , LRG_497:g.211201_211203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30729_410+30731del (AOPEP)
ENST00000696260.1:n.2098_2100del (FANCC)
ENST00000289081.8:c.1283_1285del (FANCC) MANE Select	ENSP00000289081.3:p.Phe428del
ENST00000375305.6:c.1283_1285del (FANCC)	ENSP00000364454.1:p.Phe428del
ENST00000490972.7:c.1283_1285del (FANCC)	ENSP00000479931.1:p.Phe428del
ENST00000649334.1:c.1428_1430del (FANCC)	ENSP00000497735.1:n.1428_1430del
ENST00000289081.7:c.1283_1285del (FANCC)	ENSP00000289081.3:p.Phe428del
ENST00000375305.5:c.1283_1285del (FANCC)	ENSP00000364454.1:p.Phe428del
ENST00000464627.5:n.610_612del (FANCC)
ENST00000477942.5:n.638_640del (FANCC)
ENST00000480712.5:n.468_470del (FANCC)
ENST00000490972.6:c.1283_1285del (FANCC)	ENSP00000479931.1:p.Phe428del
NM_000136.2:c.1283_1285del , LRG_497t1:c.1283_1285del (FANCC)	NP_000127.2:p.Phe428del
NM_001243743.1:c.1283_1285del (FANCC)	NP_001230672.1:p.Phe428del
NM_001243744.1:c.1283_1285del (FANCC)	NP_001230673.1:p.Phe428del
XM_005251802.2:c.602_604del (FANCC)	XP_005251859.1:p.Phe201del
XM_006717001.1:c.1118_1120del (FANCC)	XP_006717064.1:p.Phe373del
XM_006717002.2:c.1283_1285del (FANCC)	XP_006717065.1:p.Phe428del
XM_011518365.1:c.1283_1285del (FANCC)	XP_011516667.1:p.Phe428del
XM_011518366.1:c.1283_1285del (FANCC)	XP_011516668.1:p.Phe428del
XM_011518367.1:c.827_829del (FANCC)	XP_011516669.1:p.Phe276del
XM_011519121.1:c.2319+30729_2319+30731del (AOPEP)	XP_011517423.1:n.2319+30729_2319+30731del
XM_005251802.3:c.602_604del (FANCC)	XP_005251859.1:p.Phe201del
XM_006717001.3:c.1118_1120del (FANCC)	XP_006717064.1:p.Phe373del
XM_006717002.4:c.1283_1285del (FANCC)	XP_006717065.1:p.Phe428del
XM_011518365.3:c.1283_1285del (FANCC)	XP_011516667.1:p.Phe428del
XM_011518366.3:c.1283_1285del (FANCC)	XP_011516668.1:p.Phe428del
XM_011518367.2:c.827_829del (FANCC)	XP_011516669.1:p.Phe276del
XM_011519121.3:c.2319+30729_2319+30731del (AOPEP)	XP_011517423.1:n.2319+30729_2319+30731del
XM_017014452.2:c.827_829del (FANCC)	XP_016869941.1:p.Phe276del
XM_017014453.1:c.827_829del (FANCC)	XP_016869942.1:p.Phe276del
XM_017014454.1:c.662_664del (FANCC)	XP_016869943.1:p.Phe221del
XM_024447451.1:c.1283_1285del (FANCC)	XP_024303219.1:p.Phe428del
NM_000136.3:c.1283_1285del (FANCC) MANE Select	NP_000127.2:p.Phe428del
NM_001243743.2:c.1283_1285del (FANCC)	NP_001230672.1:p.Phe428del
NM_001243744.2:c.1283_1285del (FANCC)	NP_001230673.1:p.Phe428del