Canonical Allele Identifier: CA2690788002

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95106926-T-TGTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95106926_95106927insGTTGA , CM000671.2:g.95106926_95106927insGTTGA	GRCh38
NC_000009.11:g.97869208_97869209insGTTGA , CM000671.1:g.97869208_97869209insGTTGA	GRCh37
NC_000009.10:g.96909029_96909030insGTTGA	NCBI36
NG_011707.1:g.215783_215784insTCAAC , LRG_497:g.215783_215784insTCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26146_410+26147insGTTGA (AOPEP)
ENST00000696260.1:n.2348+139_2348+140insTCAAC (FANCC)
ENST00000289081.8:c.1533+139_1533+140insTCAAC (FANCC) MANE Select	ENSP00000289081.3:n.1533+139_1533+140insTCAAC
ENST00000375305.6:c.1533+139_1533+140insTCAAC (FANCC)	ENSP00000364454.1:n.1533+139_1533+140insTCAAC
ENST00000649334.1:c.1678+139_1678+140insTCAAC (FANCC)	ENSP00000497735.1:n.1678+139_1678+140insTCAAC
ENST00000289081.7:c.1533+139_1533+140insTCAAC (FANCC)	ENSP00000289081.3:n.1533+139_1533+140insTCAAC
ENST00000375305.5:c.1533+139_1533+140insTCAAC (FANCC)	ENSP00000364454.1:n.1533+139_1533+140insTCAAC
NM_000136.2:c.1533+139_1533+140insTCAAC , LRG_497t1:c.1533+139_1533+140insTCAAC (FANCC)	NP_000127.2:n.1533+139_1533+140insTCAAC
NM_001243743.1:c.1533+139_1533+140insTCAAC (FANCC)	NP_001230672.1:n.1533+139_1533+140insTCAAC
XM_005251802.2:c.852+139_852+140insTCAAC (FANCC)	XP_005251859.1:n.852+139_852+140insTCAAC
XM_006717001.1:c.1368+139_1368+140insTCAAC (FANCC)	XP_006717064.1:n.1368+139_1368+140insTCAAC
XM_011518365.1:c.1533+139_1533+140insTCAAC (FANCC)	XP_011516667.1:n.1533+139_1533+140insTCAAC
XM_011518367.1:c.1077+139_1077+140insTCAAC (FANCC)	XP_011516669.1:n.1077+139_1077+140insTCAAC
XM_011519121.1:c.2319+26146_2319+26147insGTTGA (AOPEP)	XP_011517423.1:n.2319+26146_2319+26147insGTTGA
XM_005251802.3:c.852+139_852+140insTCAAC (FANCC)	XP_005251859.1:n.852+139_852+140insTCAAC
XM_006717001.3:c.1368+139_1368+140insTCAAC (FANCC)	XP_006717064.1:n.1368+139_1368+140insTCAAC
XM_011518365.3:c.1533+139_1533+140insTCAAC (FANCC)	XP_011516667.1:n.1533+139_1533+140insTCAAC
XM_011518367.2:c.1077+139_1077+140insTCAAC (FANCC)	XP_011516669.1:n.1077+139_1077+140insTCAAC
XM_011519121.3:c.2319+26146_2319+26147insGTTGA (AOPEP)	XP_011517423.1:n.2319+26146_2319+26147insGTTGA
XM_017014452.2:c.1077+139_1077+140insTCAAC (FANCC)	XP_016869941.1:n.1077+139_1077+140insTCAAC
XM_017014453.1:c.1077+139_1077+140insTCAAC (FANCC)	XP_016869942.1:n.1077+139_1077+140insTCAAC
XM_017014454.1:c.912+139_912+140insTCAAC (FANCC)	XP_016869943.1:n.912+139_912+140insTCAAC
XM_024447451.1:c.1533+139_1533+140insTCAAC (FANCC)	XP_024303219.1:n.1533+139_1533+140insTCAAC
XR_001746847.1:n.344_345insGTTGA
NM_000136.3:c.1533+139_1533+140insTCAAC (FANCC) MANE Select	NP_000127.2:n.1533+139_1533+140insTCAAC
NM_001243743.2:c.1533+139_1533+140insTCAAC (FANCC)	NP_001230672.1:n.1533+139_1533+140insTCAAC