Canonical Allele Identifier: CA2690789915

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95114643-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114644_95114645dup , CM000671.2:g.95114644_95114645dup	GRCh38
NC_000009.11:g.97876926_97876927dup , CM000671.1:g.97876926_97876927dup	GRCh37
NC_000009.10:g.96916747_96916748dup	NCBI36
NG_011707.1:g.208065_208066dup , LRG_497:g.208065_208066dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.411-32567_411-32566dup (AOPEP)
ENST00000289081.8:c.1138_1139dup (FANCC) MANE Select	ENSP00000289081.3:p.Asp381LysfsTer?
ENST00000375305.6:c.1138_1139dup (FANCC)	ENSP00000364454.1:p.Asp381LysfsTer?
ENST00000490972.7:c.1138_1139dup (FANCC)	ENSP00000479931.1:p.Asp381LysfsTer?
ENST00000649334.1:c.1283_1284dup (FANCC)	ENSP00000497735.1:n.1283_1284dup
ENST00000289081.7:c.1138_1139dup (FANCC)	ENSP00000289081.3:p.Asp381LysfsTer?
ENST00000375305.5:c.1138_1139dup (FANCC)	ENSP00000364454.1:p.Asp381LysfsTer?
ENST00000464627.5:n.465_466dup (FANCC)
ENST00000464653.1:n.1134_1135dup (FANCC)
ENST00000477942.5:n.493_494dup (FANCC)
ENST00000480712.5:n.323_324dup (FANCC)
ENST00000490972.6:c.1138_1139dup (FANCC)	ENSP00000479931.1:p.Asp381LysfsTer?
NM_000136.2:c.1138_1139dup , LRG_497t1:c.1138_1139dup (FANCC)	NP_000127.2:p.Asp381LysfsTer?
NM_001243743.1:c.1138_1139dup (FANCC)	NP_001230672.1:p.Asp381LysfsTer?
NM_001243744.1:c.1138_1139dup (FANCC)	NP_001230673.1:p.Asp381LysfsTer?
XM_005251802.2:c.457_458dup (FANCC)	XP_005251859.1:p.Asp154LysfsTer?
XM_006717001.1:c.973_974dup (FANCC)	XP_006717064.1:p.Asp326LysfsTer?
XM_006717002.2:c.1138_1139dup (FANCC)	XP_006717065.1:p.Asp381LysfsTer?
XM_006717004.2:c.*33_*34dup (FANCC)	XP_006717067.1:n.*33_*34dup
XM_011518365.1:c.1138_1139dup (FANCC)	XP_011516667.1:p.Asp381LysfsTer?
XM_011518366.1:c.1138_1139dup (FANCC)	XP_011516668.1:p.Asp381LysfsTer?
XM_011518367.1:c.682_683dup (FANCC)	XP_011516669.1:p.Asp229LysfsTer?
XM_011519121.1:c.2320-32567_2320-32566dup (AOPEP)	XP_011517423.1:n.2320-32567_2320-32566dup
XM_005251802.3:c.457_458dup (FANCC)	XP_005251859.1:p.Asp154LysfsTer?
XM_006717001.3:c.973_974dup (FANCC)	XP_006717064.1:p.Asp326LysfsTer?
XM_006717002.4:c.1138_1139dup (FANCC)	XP_006717065.1:p.Asp381LysfsTer?
XM_006717004.4:c.*33_*34dup (FANCC)	XP_006717067.1:n.*33_*34dup
XM_011518365.3:c.1138_1139dup (FANCC)	XP_011516667.1:p.Asp381LysfsTer?
XM_011518366.3:c.1138_1139dup (FANCC)	XP_011516668.1:p.Asp381LysfsTer?
XM_011518367.2:c.682_683dup (FANCC)	XP_011516669.1:p.Asp229LysfsTer?
XM_011519121.3:c.2320-32567_2320-32566dup (AOPEP)	XP_011517423.1:n.2320-32567_2320-32566dup
XM_017014452.2:c.682_683dup (FANCC)	XP_016869941.1:p.Asp229LysfsTer?
XM_017014453.1:c.682_683dup (FANCC)	XP_016869942.1:p.Asp229LysfsTer?
XM_017014454.1:c.517_518dup (FANCC)	XP_016869943.1:p.Asp174LysfsTer?
XM_024447451.1:c.1138_1139dup (FANCC)	XP_024303219.1:p.Asp381LysfsTer?
NM_000136.3:c.1138_1139dup (FANCC) MANE Select	NP_000127.2:p.Asp381LysfsTer?
NM_001243743.2:c.1138_1139dup (FANCC)	NP_001230672.1:p.Asp381LysfsTer?
NM_001243744.2:c.1138_1139dup (FANCC)	NP_001230673.1:p.Asp381LysfsTer?