Canonical Allele Identifier: CA589580888

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 485542
• ClinVar RCV Id: RCV000565785 ; RCV001273983 ; RCV001853768
• dbSNP Id: rs1210997135
• gnomAD v2: 9-97873783-CGTA-C
• gnomAD v3: 9-95111501-CGTA-C
• gnomAD v4: 9-95111501-CGTA-C
• MyVariant Identifiers: chr9:g.97873784_97873786del (hg19) ; chr9:g.95111502_95111504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111506_95111508del , CM000671.2:g.95111506_95111508del	GRCh38
NC_000009.11:g.97873788_97873790del , CM000671.1:g.97873788_97873790del	GRCh37
NC_000009.10:g.96913609_96913611del	NCBI36
NG_011707.1:g.211206_211208del , LRG_497:g.211206_211208del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30726_410+30728del (AOPEP)
ENST00000696260.1:n.2103_2105del (FANCC)
ENST00000289081.8:c.1288_1290del (FANCC) MANE Select	ENSP00000289081.3:p.Tyr430del
ENST00000375305.6:c.1288_1290del (FANCC)	ENSP00000364454.1:p.Tyr430del
ENST00000490972.7:c.1288_1290del (FANCC)	ENSP00000479931.1:p.Tyr430del
ENST00000649334.1:c.1433_1435del (FANCC)	ENSP00000497735.1:n.1433_1435del
ENST00000289081.7:c.1288_1290del (FANCC)	ENSP00000289081.3:p.Tyr430del
ENST00000375305.5:c.1288_1290del (FANCC)	ENSP00000364454.1:p.Tyr430del
ENST00000464627.5:n.615_617del (FANCC)
ENST00000477942.5:n.643_645del (FANCC)
ENST00000480712.5:n.473_475del (FANCC)
ENST00000490972.6:c.1288_1290del (FANCC)	ENSP00000479931.1:p.Tyr430del
NM_000136.2:c.1288_1290del , LRG_497t1:c.1288_1290del (FANCC)	NP_000127.2:p.Tyr430del
NM_001243743.1:c.1288_1290del (FANCC)	NP_001230672.1:p.Tyr430del
NM_001243744.1:c.1288_1290del (FANCC)	NP_001230673.1:p.Tyr430del
XM_005251802.2:c.607_609del (FANCC)	XP_005251859.1:p.Tyr203del
XM_006717001.1:c.1123_1125del (FANCC)	XP_006717064.1:p.Tyr375del
XM_006717002.2:c.1288_1290del (FANCC)	XP_006717065.1:p.Tyr430del
XM_011518365.1:c.1288_1290del (FANCC)	XP_011516667.1:p.Tyr430del
XM_011518366.1:c.1288_1290del (FANCC)	XP_011516668.1:p.Tyr430del
XM_011518367.1:c.832_834del (FANCC)	XP_011516669.1:p.Tyr278del
XM_011519121.1:c.2319+30726_2319+30728del (AOPEP)	XP_011517423.1:n.2319+30726_2319+30728del...
XM_005251802.3:c.607_609del (FANCC)	XP_005251859.1:p.Tyr203del
XM_006717001.3:c.1123_1125del (FANCC)	XP_006717064.1:p.Tyr375del
XM_006717002.4:c.1288_1290del (FANCC)	XP_006717065.1:p.Tyr430del
XM_011518365.3:c.1288_1290del (FANCC)	XP_011516667.1:p.Tyr430del
XM_011518366.3:c.1288_1290del (FANCC)	XP_011516668.1:p.Tyr430del
XM_011518367.2:c.832_834del (FANCC)	XP_011516669.1:p.Tyr278del
XM_011519121.3:c.2319+30726_2319+30728del (AOPEP)	XP_011517423.1:n.2319+30726_2319+30728del...
XM_017014452.2:c.832_834del (FANCC)	XP_016869941.1:p.Tyr278del
XM_017014453.1:c.832_834del (FANCC)	XP_016869942.1:p.Tyr278del
XM_017014454.1:c.667_669del (FANCC)	XP_016869943.1:p.Tyr223del
XM_024447451.1:c.1288_1290del (FANCC)	XP_024303219.1:p.Tyr430del
NM_000136.3:c.1288_1290del (FANCC) MANE Select	NP_000127.2:p.Tyr430del
NM_001243743.2:c.1288_1290del (FANCC)	NP_001230672.1:p.Tyr430del
NM_001243744.2:c.1288_1290del (FANCC)	NP_001230673.1:p.Tyr430del