Canonical Allele Identifier: CA658821265

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 555232
• ClinVar RCV Id: RCV000671011
• dbSNP Id: rs1554830220
• MyVariant Identifiers: chr9:g.95114631_95114632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114631_95114632del , CM000671.2:g.95114631_95114632del	GRCh38
NC_000009.11:g.97876913_97876914del , CM000671.1:g.97876913_97876914del	GRCh37
NC_000009.10:g.96916734_96916735del	NCBI36
NG_011707.1:g.208078_208079del , LRG_497:g.208078_208079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.411-32580_411-32579del (AOPEP)
ENST00000289081.8:c.1151_1152del (FANCC) MANE Select	ENSP00000289081.3:p.His384ArgfsTer8
ENST00000375305.6:c.1151_1152del (FANCC)	ENSP00000364454.1:p.His384ArgfsTer8
ENST00000490972.7:c.1151_1152del (FANCC)	ENSP00000479931.1:p.His384ArgfsTer8
ENST00000649334.1:c.1296_1297del (FANCC)	ENSP00000497735.1:n.1296_1297del
ENST00000289081.7:c.1151_1152del (FANCC)	ENSP00000289081.3:p.His384ArgfsTer8
ENST00000375305.5:c.1151_1152del (FANCC)	ENSP00000364454.1:p.His384ArgfsTer8
ENST00000464627.5:n.478_479del (FANCC)
ENST00000464653.1:n.1147_1148del (FANCC)
ENST00000477942.5:n.506_507del (FANCC)
ENST00000480712.5:n.336_337del (FANCC)
ENST00000490972.6:c.1151_1152del (FANCC)	ENSP00000479931.1:p.His384ArgfsTer8
NM_000136.2:c.1151_1152del , LRG_497t1:c.1151_1152del (FANCC)	NP_000127.2:p.His384ArgfsTer8
NM_001243743.1:c.1151_1152del (FANCC)	NP_001230672.1:p.His384ArgfsTer8
NM_001243744.1:c.1151_1152del (FANCC)	NP_001230673.1:p.His384ArgfsTer8
XM_005251802.2:c.470_471del (FANCC)	XP_005251859.1:p.His157ArgfsTer8
XM_006717001.1:c.986_987del (FANCC)	XP_006717064.1:p.His329ArgfsTer8
XM_006717002.2:c.1151_1152del (FANCC)	XP_006717065.1:p.His384ArgfsTer8
XM_006717004.2:c.*46_*47del (FANCC)	XP_006717067.1:n.*46_*47del
XM_011518365.1:c.1151_1152del (FANCC)	XP_011516667.1:p.His384ArgfsTer8
XM_011518366.1:c.1151_1152del (FANCC)	XP_011516668.1:p.His384ArgfsTer8
XM_011518367.1:c.695_696del (FANCC)	XP_011516669.1:p.His232ArgfsTer8
XM_011519121.1:c.2320-32580_2320-32579del (AOPEP)	XP_011517423.1:n.2320-32580_2320-32579del
XM_005251802.3:c.470_471del (FANCC)	XP_005251859.1:p.His157ArgfsTer8
XM_006717001.3:c.986_987del (FANCC)	XP_006717064.1:p.His329ArgfsTer8
XM_006717002.4:c.1151_1152del (FANCC)	XP_006717065.1:p.His384ArgfsTer8
XM_006717004.4:c.*46_*47del (FANCC)	XP_006717067.1:n.*46_*47del
XM_011518365.3:c.1151_1152del (FANCC)	XP_011516667.1:p.His384ArgfsTer8
XM_011518366.3:c.1151_1152del (FANCC)	XP_011516668.1:p.His384ArgfsTer8
XM_011518367.2:c.695_696del (FANCC)	XP_011516669.1:p.His232ArgfsTer8
XM_011519121.3:c.2320-32580_2320-32579del (AOPEP)	XP_011517423.1:n.2320-32580_2320-32579del
XM_017014452.2:c.695_696del (FANCC)	XP_016869941.1:p.His232ArgfsTer8
XM_017014453.1:c.695_696del (FANCC)	XP_016869942.1:p.His232ArgfsTer8
XM_017014454.1:c.530_531del (FANCC)	XP_016869943.1:p.His177ArgfsTer8
XM_024447451.1:c.1151_1152del (FANCC)	XP_024303219.1:p.His384ArgfsTer8
NM_000136.3:c.1151_1152del (FANCC) MANE Select	NP_000127.2:p.His384ArgfsTer8
NM_001243743.2:c.1151_1152del (FANCC)	NP_001230672.1:p.His384ArgfsTer8
NM_001243744.2:c.1151_1152del (FANCC)	NP_001230673.1:p.His384ArgfsTer8