Canonical Allele Identifier: CA2690789439

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111506-T-TAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111507_95111510dup , CM000671.2:g.95111507_95111510dup	GRCh38
NC_000009.11:g.97873789_97873792dup , CM000671.1:g.97873789_97873792dup	GRCh37
NC_000009.10:g.96913610_96913613dup	NCBI36
NG_011707.1:g.211200_211203dup , LRG_497:g.211200_211203dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30727_410+30730dup (AOPEP)
ENST00000696260.1:n.2097_2100dup (FANCC)
ENST00000289081.8:c.1282_1285dup (FANCC) MANE Select	ENSP00000289081.3:p.Tyr429PhefsTer7
ENST00000375305.6:c.1282_1285dup (FANCC)	ENSP00000364454.1:p.Tyr429PhefsTer7
ENST00000490972.7:c.1282_1285dup (FANCC)	ENSP00000479931.1:p.Tyr429PhefsTer7
ENST00000649334.1:c.1427_1430dup (FANCC)	ENSP00000497735.1:n.1427_1430dup
ENST00000289081.7:c.1282_1285dup (FANCC)	ENSP00000289081.3:p.Tyr429PhefsTer7
ENST00000375305.5:c.1282_1285dup (FANCC)	ENSP00000364454.1:p.Tyr429PhefsTer7
ENST00000464627.5:n.609_612dup (FANCC)
ENST00000477942.5:n.637_640dup (FANCC)
ENST00000480712.5:n.467_470dup (FANCC)
ENST00000490972.6:c.1282_1285dup (FANCC)	ENSP00000479931.1:p.Tyr429PhefsTer7
NM_000136.2:c.1282_1285dup , LRG_497t1:c.1282_1285dup (FANCC)	NP_000127.2:p.Tyr429PhefsTer7
NM_001243743.1:c.1282_1285dup (FANCC)	NP_001230672.1:p.Tyr429PhefsTer7
NM_001243744.1:c.1282_1285dup (FANCC)	NP_001230673.1:p.Tyr429PhefsTer7
XM_005251802.2:c.601_604dup (FANCC)	XP_005251859.1:p.Tyr202PhefsTer7
XM_006717001.1:c.1117_1120dup (FANCC)	XP_006717064.1:p.Tyr374PhefsTer7
XM_006717002.2:c.1282_1285dup (FANCC)	XP_006717065.1:p.Tyr429PhefsTer7
XM_011518365.1:c.1282_1285dup (FANCC)	XP_011516667.1:p.Tyr429PhefsTer7
XM_011518366.1:c.1282_1285dup (FANCC)	XP_011516668.1:p.Tyr429PhefsTer7
XM_011518367.1:c.826_829dup (FANCC)	XP_011516669.1:p.Tyr277PhefsTer7
XM_011519121.1:c.2319+30727_2319+30730dup (AOPEP)	XP_011517423.1:n.2319+30727_2319+30730dup...
XM_005251802.3:c.601_604dup (FANCC)	XP_005251859.1:p.Tyr202PhefsTer7
XM_006717001.3:c.1117_1120dup (FANCC)	XP_006717064.1:p.Tyr374PhefsTer7
XM_006717002.4:c.1282_1285dup (FANCC)	XP_006717065.1:p.Tyr429PhefsTer7
XM_011518365.3:c.1282_1285dup (FANCC)	XP_011516667.1:p.Tyr429PhefsTer7
XM_011518366.3:c.1282_1285dup (FANCC)	XP_011516668.1:p.Tyr429PhefsTer7
XM_011518367.2:c.826_829dup (FANCC)	XP_011516669.1:p.Tyr277PhefsTer7
XM_011519121.3:c.2319+30727_2319+30730dup (AOPEP)	XP_011517423.1:n.2319+30727_2319+30730dup...
XM_017014452.2:c.826_829dup (FANCC)	XP_016869941.1:p.Tyr277PhefsTer7
XM_017014453.1:c.826_829dup (FANCC)	XP_016869942.1:p.Tyr277PhefsTer7
XM_017014454.1:c.661_664dup (FANCC)	XP_016869943.1:p.Tyr222PhefsTer7
XM_024447451.1:c.1282_1285dup (FANCC)	XP_024303219.1:p.Tyr429PhefsTer7
NM_000136.3:c.1282_1285dup (FANCC) MANE Select	NP_000127.2:p.Tyr429PhefsTer7
NM_001243743.2:c.1282_1285dup (FANCC)	NP_001230672.1:p.Tyr429PhefsTer7
NM_001243744.2:c.1282_1285dup (FANCC)	NP_001230673.1:p.Tyr429PhefsTer7