Canonical Allele Identifier: CA16618878

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 421433
• ClinVar RCV Id: RCV001010546 ; RCV001349481 ; RCV003156245
• dbSNP Id: rs1064795135

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111539_95111540delinsTC , CM000671.2:g.95111539_95111540delinsTC	GRCh38
NC_000009.11:g.97873821_97873822delinsTC , CM000671.1:g.97873821_97873822delinsTC	GRCh37
NC_000009.10:g.96913642_96913643delinsTC	NCBI36
NG_011707.1:g.211170_211171delinsGA , LRG_497:g.211170_211171delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30759_410+30760delinsTC (AOPEP)
ENST00000696260.1:n.2067_2068delinsGA (FANCC)
ENST00000289081.8:c.1252_1253delinsGA (FANCC) MANE Select	ENSP00000289081.3:p.Pro418Asp
ENST00000375305.6:c.1252_1253delinsGA (FANCC)	ENSP00000364454.1:p.Pro418Asp
ENST00000490972.7:c.1252_1253delinsGA (FANCC)	ENSP00000479931.1:p.Pro418Asp
ENST00000649334.1:c.1397_1398delinsGA (FANCC)	ENSP00000497735.1:n.1397_1398delinsGA
ENST00000289081.7:c.1252_1253delinsGA (FANCC)	ENSP00000289081.3:p.Pro418Asp
ENST00000375305.5:c.1252_1253delinsGA (FANCC)	ENSP00000364454.1:p.Pro418Asp
ENST00000464627.5:n.579_580delinsGA (FANCC)
ENST00000477942.5:n.607_608delinsGA (FANCC)
ENST00000480712.5:n.437_438delinsGA (FANCC)
ENST00000490972.6:c.1252_1253delinsGA (FANCC)	ENSP00000479931.1:p.Pro418Asp
NM_000136.2:c.1252_1253delinsGA , LRG_497t1:c.1252_1253delinsGA (FANCC)	NP_000127.2:p.Pro418Asp
NM_001243743.1:c.1252_1253delinsGA (FANCC)	NP_001230672.1:p.Pro418Asp
NM_001243744.1:c.1252_1253delinsGA (FANCC)	NP_001230673.1:p.Pro418Asp
XM_005251802.2:c.571_572delinsGA (FANCC)	XP_005251859.1:p.Pro191Asp
XM_006717001.1:c.1087_1088delinsGA (FANCC)	XP_006717064.1:p.Pro363Asp
XM_006717002.2:c.1252_1253delinsGA (FANCC)	XP_006717065.1:p.Pro418Asp
XM_011518365.1:c.1252_1253delinsGA (FANCC)	XP_011516667.1:p.Pro418Asp
XM_011518366.1:c.1252_1253delinsGA (FANCC)	XP_011516668.1:p.Pro418Asp
XM_011518367.1:c.796_797delinsGA (FANCC)	XP_011516669.1:p.Pro266Asp
XM_011519121.1:c.2319+30759_2319+30760delinsTC (AOPEP)	XP_011517423.1:n.2319+30759_2319+30760delinsTC
XM_005251802.3:c.571_572delinsGA (FANCC)	XP_005251859.1:p.Pro191Asp
XM_006717001.3:c.1087_1088delinsGA (FANCC)	XP_006717064.1:p.Pro363Asp
XM_006717002.4:c.1252_1253delinsGA (FANCC)	XP_006717065.1:p.Pro418Asp
XM_006717004.4:c.*147_*148delinsGA (FANCC)	XP_006717067.1:n.*147_*148delinsGA
XM_011518365.3:c.1252_1253delinsGA (FANCC)	XP_011516667.1:p.Pro418Asp
XM_011518366.3:c.1252_1253delinsGA (FANCC)	XP_011516668.1:p.Pro418Asp
XM_011518367.2:c.796_797delinsGA (FANCC)	XP_011516669.1:p.Pro266Asp
XM_011519121.3:c.2319+30759_2319+30760delinsTC (AOPEP)	XP_011517423.1:n.2319+30759_2319+30760delinsTC
XM_017014452.2:c.796_797delinsGA (FANCC)	XP_016869941.1:p.Pro266Asp
XM_017014453.1:c.796_797delinsGA (FANCC)	XP_016869942.1:p.Pro266Asp
XM_017014454.1:c.631_632delinsGA (FANCC)	XP_016869943.1:p.Pro211Asp
XM_024447451.1:c.1252_1253delinsGA (FANCC)	XP_024303219.1:p.Pro418Asp
NM_000136.3:c.1252_1253delinsGA (FANCC) MANE Select	NP_000127.2:p.Pro418Asp
NM_001243743.2:c.1252_1253delinsGA (FANCC)	NP_001230672.1:p.Pro418Asp
NM_001243744.2:c.1252_1253delinsGA (FANCC)	NP_001230673.1:p.Pro418Asp