Canonical Allele Identifier: CA2499220002

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1072020
• ClinVar RCV Id: RCV001384637
• dbSNP Id: rs2134546063
• gnomAD v4: 9-95111463-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111465_95111466del , CM000671.2:g.95111465_95111466del	GRCh38
NC_000009.11:g.97873747_97873748del , CM000671.1:g.97873747_97873748del	GRCh37
NC_000009.10:g.96913568_96913569del	NCBI36
NG_011707.1:g.211245_211246del , LRG_497:g.211245_211246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30685_410+30686del (AOPEP)
ENST00000696260.1:n.2142_2143del (FANCC)
ENST00000289081.8:c.1327_1328del (FANCC) MANE Select	ENSP00000289081.3:p.Met443GlyfsTer?
ENST00000375305.6:c.1327_1328del (FANCC)	ENSP00000364454.1:p.Met443GlyfsTer?
ENST00000490972.7:c.1327_1328del (FANCC)	ENSP00000479931.1:p.Met443AspfsTer12
ENST00000649334.1:c.1472_1473del (FANCC)	ENSP00000497735.1:n.1472_1473del
ENST00000289081.7:c.1327_1328del (FANCC)	ENSP00000289081.3:p.Met443GlyfsTer?
ENST00000375305.5:c.1327_1328del (FANCC)	ENSP00000364454.1:p.Met443GlyfsTer?
ENST00000464627.5:n.654_655del (FANCC)
ENST00000477942.5:n.682_683del (FANCC)
ENST00000480712.5:n.512_513del (FANCC)
ENST00000490972.6:c.1327_1328del (FANCC)	ENSP00000479931.1:p.Met443AspfsTer12
NM_000136.2:c.1327_1328del , LRG_497t1:c.1327_1328del (FANCC)	NP_000127.2:p.Met443GlyfsTer?
NM_001243743.1:c.1327_1328del (FANCC)	NP_001230672.1:p.Met443GlyfsTer?
NM_001243744.1:c.1327_1328del (FANCC)	NP_001230673.1:p.Met443AspfsTer12
XM_005251802.2:c.646_647del (FANCC)	XP_005251859.1:p.Met216GlyfsTer?
XM_006717001.1:c.1162_1163del (FANCC)	XP_006717064.1:p.Met388GlyfsTer?
XM_006717002.2:c.1327_1328del (FANCC)	XP_006717065.1:p.Met443GlyfsTer?
XM_011518365.1:c.1327_1328del (FANCC)	XP_011516667.1:p.Met443GlyfsTer?
XM_011518366.1:c.1327_1328del (FANCC)	XP_011516668.1:p.Met443GlyfsTer?
XM_011518367.1:c.871_872del (FANCC)	XP_011516669.1:p.Met291GlyfsTer?
XM_011519121.1:c.2319+30685_2319+30686del (AOPEP)	XP_011517423.1:n.2319+30685_2319+30686del
XM_005251802.3:c.646_647del (FANCC)	XP_005251859.1:p.Met216GlyfsTer?
XM_006717001.3:c.1162_1163del (FANCC)	XP_006717064.1:p.Met388GlyfsTer?
XM_006717002.4:c.1327_1328del (FANCC)	XP_006717065.1:p.Met443GlyfsTer?
XM_011518365.3:c.1327_1328del (FANCC)	XP_011516667.1:p.Met443GlyfsTer?
XM_011518366.3:c.1327_1328del (FANCC)	XP_011516668.1:p.Met443GlyfsTer?
XM_011518367.2:c.871_872del (FANCC)	XP_011516669.1:p.Met291GlyfsTer?
XM_011519121.3:c.2319+30685_2319+30686del (AOPEP)	XP_011517423.1:n.2319+30685_2319+30686del
XM_017014452.2:c.871_872del (FANCC)	XP_016869941.1:p.Met291GlyfsTer?
XM_017014453.1:c.871_872del (FANCC)	XP_016869942.1:p.Met291GlyfsTer?
XM_017014454.1:c.706_707del (FANCC)	XP_016869943.1:p.Met236GlyfsTer?
XM_024447451.1:c.1327_1328del (FANCC)	XP_024303219.1:p.Met443GlyfsTer?
NM_000136.3:c.1327_1328del (FANCC) MANE Select	NP_000127.2:p.Met443GlyfsTer?
NM_001243743.2:c.1327_1328del (FANCC)	NP_001230672.1:p.Met443GlyfsTer?
NM_001243744.2:c.1327_1328del (FANCC)	NP_001230673.1:p.Met443AspfsTer12