Canonical Allele Identifier: CA589580976

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2842000
• ClinVar RCV Id: RCV003637819
• dbSNP Id: rs1380999715
• gnomAD v2: 9-97897672-T-TTC
• gnomAD v4: 9-95135390-T-TTC
• MyVariant Identifiers: chr9:g.97897672_97897673insTC (hg19) ; chr9:g.95135390_95135391insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135395_95135396dup , CM000671.2:g.95135395_95135396dup	GRCh38
NC_000009.11:g.97897677_97897678dup , CM000671.1:g.97897677_97897678dup	GRCh37
NC_000009.10:g.96937498_96937499dup	NCBI36
NG_011707.1:g.187318_187319dup , LRG_497:g.187318_187319dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11816_411-11815dup (AOPEP)
ENST00000696261.1:n.1188_1189dup (FANCC)
ENST00000289081.8:c.797_798dup (FANCC) MANE Select	ENSP00000289081.3:p.Asn267GlufsTer4
ENST00000375305.6:c.797_798dup (FANCC)	ENSP00000364454.1:p.Asn267GlufsTer4
ENST00000490972.7:c.797_798dup (FANCC)	ENSP00000479931.1:p.Asn267GlufsTer4
ENST00000649334.1:c.942_943dup (FANCC)	ENSP00000497735.1:n.942_943dup
ENST00000649701.1:n.512_513dup (FANCC)
ENST00000289081.7:c.797_798dup (FANCC)	ENSP00000289081.3:p.Asn267GlufsTer4
ENST00000375305.5:c.797_798dup (FANCC)	ENSP00000364454.1:p.Asn267GlufsTer4
ENST00000477942.5:n.152_153dup (FANCC)
ENST00000490972.6:c.797_798dup (FANCC)	ENSP00000479931.1:p.Asn267GlufsTer4
NM_000136.2:c.797_798dup , LRG_497t1:c.797_798dup (FANCC)	NP_000127.2:p.Asn267GlufsTer4
NM_001243743.1:c.797_798dup (FANCC)	NP_001230672.1:p.Asn267GlufsTer4
NM_001243744.1:c.797_798dup (FANCC)	NP_001230673.1:p.Asn267GlufsTer4
XM_005251802.2:c.116_117dup (FANCC)	XP_005251859.1:p.Asn40GlufsTer4
XM_006717001.1:c.632_633dup (FANCC)	XP_006717064.1:p.Asn212GlufsTer4
XM_006717002.2:c.797_798dup (FANCC)	XP_006717065.1:p.Asn267GlufsTer4
XM_006717004.2:c.797_798dup (FANCC)	XP_006717067.1:p.Asn267GlufsTer4
XM_011518365.1:c.797_798dup (FANCC)	XP_011516667.1:p.Asn267GlufsTer4
XM_011518366.1:c.797_798dup (FANCC)	XP_011516668.1:p.Asn267GlufsTer4
XM_011518367.1:c.341_342dup (FANCC)	XP_011516669.1:p.Asn115GlufsTer4
XM_011519121.1:c.2320-11816_2320-11815dup (AOPEP)	XP_011517423.1:n.2320-11816_2320-11815dup
XM_005251802.3:c.116_117dup (FANCC)	XP_005251859.1:p.Asn40GlufsTer4
XM_006717001.3:c.632_633dup (FANCC)	XP_006717064.1:p.Asn212GlufsTer4
XM_006717002.4:c.797_798dup (FANCC)	XP_006717065.1:p.Asn267GlufsTer4
XM_006717004.4:c.797_798dup (FANCC)	XP_006717067.1:p.Asn267GlufsTer4
XM_011518365.3:c.797_798dup (FANCC)	XP_011516667.1:p.Asn267GlufsTer4
XM_011518366.3:c.797_798dup (FANCC)	XP_011516668.1:p.Asn267GlufsTer4
XM_011518367.2:c.341_342dup (FANCC)	XP_011516669.1:p.Asn115GlufsTer4
XM_011519121.3:c.2320-11816_2320-11815dup (AOPEP)	XP_011517423.1:n.2320-11816_2320-11815dup
XM_017014452.2:c.341_342dup (FANCC)	XP_016869941.1:p.Asn115GlufsTer4
XM_017014453.1:c.341_342dup (FANCC)	XP_016869942.1:p.Asn115GlufsTer4
XM_017014454.1:c.176_177dup (FANCC)	XP_016869943.1:p.Asn60GlufsTer4
XM_024447451.1:c.797_798dup (FANCC)	XP_024303219.1:p.Asn267GlufsTer4
NM_000136.3:c.797_798dup (FANCC) MANE Select	NP_000127.2:p.Asn267GlufsTer4
NM_001243743.2:c.797_798dup (FANCC)	NP_001230672.1:p.Asn267GlufsTer4
NM_001243744.2:c.797_798dup (FANCC)	NP_001230673.1:p.Asn267GlufsTer4