Canonical Allele Identifier: CA2690791003

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95135197-T-TTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135199_95135200insGATT , CM000671.2:g.95135199_95135200insGATT	GRCh38
NC_000009.11:g.97897481_97897482insGATT , CM000671.1:g.97897481_97897482insGATT	GRCh37
NC_000009.10:g.96937302_96937303insGATT	NCBI36
NG_011707.1:g.187512_187513insTCAA , LRG_497:g.187512_187513insTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-12012_411-12011insGATT (AOPEP)
ENST00000696261.1:n.1382_1383insTCAA (FANCC)
ENST00000289081.8:c.843+148_843+149insTCAA (FANCC) MANE Select	ENSP00000289081.3:n.843+148_843+149insTCAA
ENST00000375305.6:c.843+148_843+149insTCAA (FANCC)	ENSP00000364454.1:n.843+148_843+149insTCAA
ENST00000490972.7:c.843+148_843+149insTCAA (FANCC)	ENSP00000479931.1:n.843+148_843+149insTCAA
ENST00000649334.1:c.988+148_988+149insTCAA (FANCC)	ENSP00000497735.1:n.988+148_988+149insTCAA
ENST00000649701.1:n.558+148_558+149insTCAA (FANCC)
ENST00000289081.7:c.843+148_843+149insTCAA (FANCC)	ENSP00000289081.3:n.843+148_843+149insTCAA
ENST00000375305.5:c.843+148_843+149insTCAA (FANCC)	ENSP00000364454.1:n.843+148_843+149insTCAA
ENST00000477942.5:n.198+148_198+149insTCAA (FANCC)
ENST00000480712.5:n.28+148_28+149insTCAA (FANCC)
ENST00000490972.6:c.843+148_843+149insTCAA (FANCC)	ENSP00000479931.1:n.843+148_843+149insTCAA
NM_000136.2:c.843+148_843+149insTCAA , LRG_497t1:c.843+148_843+149insTCAA (FANCC)	NP_000127.2:n.843+148_843+149insTCAA
NM_001243743.1:c.843+148_843+149insTCAA (FANCC)	NP_001230672.1:n.843+148_843+149insTCAA
NM_001243744.1:c.843+148_843+149insTCAA (FANCC)	NP_001230673.1:n.843+148_843+149insTCAA
XM_005251802.2:c.162+148_162+149insTCAA (FANCC)	XP_005251859.1:n.162+148_162+149insTCAA
XM_006717001.1:c.678+148_678+149insTCAA (FANCC)	XP_006717064.1:n.678+148_678+149insTCAA
XM_006717002.2:c.843+148_843+149insTCAA (FANCC)	XP_006717065.1:n.843+148_843+149insTCAA
XM_006717004.2:c.843+148_843+149insTCAA (FANCC)	XP_006717067.1:n.843+148_843+149insTCAA
XM_011518365.1:c.843+148_843+149insTCAA (FANCC)	XP_011516667.1:n.843+148_843+149insTCAA
XM_011518366.1:c.843+148_843+149insTCAA (FANCC)	XP_011516668.1:n.843+148_843+149insTCAA
XM_011518367.1:c.387+148_387+149insTCAA (FANCC)	XP_011516669.1:n.387+148_387+149insTCAA
XM_011519121.1:c.2320-12012_2320-12011insGATT (AOPEP)	XP_011517423.1:n.2320-12012_2320-12011insGATT
XM_005251802.3:c.162+148_162+149insTCAA (FANCC)	XP_005251859.1:n.162+148_162+149insTCAA
XM_006717001.3:c.678+148_678+149insTCAA (FANCC)	XP_006717064.1:n.678+148_678+149insTCAA
XM_006717002.4:c.843+148_843+149insTCAA (FANCC)	XP_006717065.1:n.843+148_843+149insTCAA
XM_006717004.4:c.843+148_843+149insTCAA (FANCC)	XP_006717067.1:n.843+148_843+149insTCAA
XM_011518365.3:c.843+148_843+149insTCAA (FANCC)	XP_011516667.1:n.843+148_843+149insTCAA
XM_011518366.3:c.843+148_843+149insTCAA (FANCC)	XP_011516668.1:n.843+148_843+149insTCAA
XM_011518367.2:c.387+148_387+149insTCAA (FANCC)	XP_011516669.1:n.387+148_387+149insTCAA
XM_011519121.3:c.2320-12012_2320-12011insGATT (AOPEP)	XP_011517423.1:n.2320-12012_2320-12011insGATT
XM_017014452.2:c.387+148_387+149insTCAA (FANCC)	XP_016869941.1:n.387+148_387+149insTCAA
XM_017014453.1:c.387+148_387+149insTCAA (FANCC)	XP_016869942.1:n.387+148_387+149insTCAA
XM_017014454.1:c.222+148_222+149insTCAA (FANCC)	XP_016869943.1:n.222+148_222+149insTCAA
XM_024447451.1:c.843+148_843+149insTCAA (FANCC)	XP_024303219.1:n.843+148_843+149insTCAA
NM_000136.3:c.843+148_843+149insTCAA (FANCC) MANE Select	NP_000127.2:n.843+148_843+149insTCAA
NM_001243743.2:c.843+148_843+149insTCAA (FANCC)	NP_001230672.1:n.843+148_843+149insTCAA
NM_001243744.2:c.843+148_843+149insTCAA (FANCC)	NP_001230673.1:n.843+148_843+149insTCAA