Canonical Allele Identifier: CA2582342007

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2585984
• ClinVar RCV Id: RCV003358186

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101715_95101718dup , CM000671.2:g.95101715_95101718dup	GRCh38
NC_000009.11:g.97863997_97864000dup , CM000671.1:g.97863997_97864000dup	GRCh37
NC_000009.10:g.96903818_96903821dup	NCBI36
NG_011707.1:g.220993_220996dup , LRG_497:g.220993_220996dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20935_410+20938dup (AOPEP)
ENST00000696260.1:n.2482_2485dup (FANCC)
ENST00000289081.8:c.1667_1670dup (FANCC) MANE Select	ENSP00000289081.3:p.Gln557HisfsTer?
ENST00000375305.6:c.1667_1670dup (FANCC)	ENSP00000364454.1:p.Gln557HisfsTer?
ENST00000649334.1:c.1812_1815dup (FANCC)	ENSP00000497735.1:n.1812_1815dup
ENST00000289081.7:c.1667_1670dup (FANCC)	ENSP00000289081.3:p.Gln557HisfsTer?
ENST00000375305.5:c.1667_1670dup (FANCC)	ENSP00000364454.1:p.Gln557HisfsTer?
NM_000136.2:c.1667_1670dup , LRG_497t1:c.1667_1670dup (FANCC)	NP_000127.2:p.Gln557HisfsTer?
NM_001243743.1:c.1667_1670dup (FANCC)	NP_001230672.1:p.Gln557HisfsTer?
XM_005251802.2:c.986_989dup (FANCC)	XP_005251859.1:p.Gln330HisfsTer?
XM_006717001.1:c.1502_1505dup (FANCC)	XP_006717064.1:p.Gln502HisfsTer?
XM_011518365.1:c.1667_1670dup (FANCC)	XP_011516667.1:p.Gln557HisfsTer?
XM_011518367.1:c.1211_1214dup (FANCC)	XP_011516669.1:p.Gln405HisfsTer?
XM_011519121.1:c.2319+20935_2319+20938dup (AOPEP)	XP_011517423.1:n.2319+20935_2319+20938dup
XM_005251802.3:c.986_989dup (FANCC)	XP_005251859.1:p.Gln330HisfsTer?
XM_006717001.3:c.1502_1505dup (FANCC)	XP_006717064.1:p.Gln502HisfsTer?
XM_011518365.3:c.1667_1670dup (FANCC)	XP_011516667.1:p.Gln557HisfsTer?
XM_011518367.2:c.1211_1214dup (FANCC)	XP_011516669.1:p.Gln405HisfsTer?
XM_011519121.3:c.2319+20935_2319+20938dup (AOPEP)	XP_011517423.1:n.2319+20935_2319+20938dup
XM_017014452.2:c.1211_1214dup (FANCC)	XP_016869941.1:p.Gln405HisfsTer?
XM_017014453.1:c.1211_1214dup (FANCC)	XP_016869942.1:p.Gln405HisfsTer?
XM_017014454.1:c.1046_1049dup (FANCC)	XP_016869943.1:p.Gln350HisfsTer?
XM_024447451.1:c.1667_1670dup (FANCC)	XP_024303219.1:p.Gln557HisfsTer?
NM_000136.3:c.1667_1670dup (FANCC) MANE Select	NP_000127.2:p.Gln557HisfsTer?
NM_001243743.2:c.1667_1670dup (FANCC)	NP_001230672.1:p.Gln557HisfsTer?