Canonical Allele Identifier: CA16041346
Gene: AOPEP HGNC NCBI
FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 371351
ClinVar RCV Id: RCV000409673
dbSNP Id: rs1057517203
MyVariant Identifiers: chr9:g.97912251dupT (hg19) chr9:g.97912250_97912251insT (hg19) chr9:g.95149969dupT (hg38) chr9:g.95149968_95149969insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95149971dup , CM000671.2:g.95149971dup GRCh38
NC_000009.11:g.97912253dup , CM000671.1:g.97912253dup GRCh37
NC_000009.10:g.96952074dup NCBI36
NG_011707.1:g.172741dup , LRG_497:g.172741dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.3171dup (AOPEP)
ENST00000696261.1:n.1031dup (FANCC)
ENST00000289081.8:c.640dup (FANCC) MANE Select ENSP00000289081.3:p.Ile214AsnfsTer8
ENST00000375305.6:c.640dup (FANCC) ENSP00000364454.1:p.Ile214AsnfsTer8
ENST00000490972.7:c.640dup (FANCC) ENSP00000479931.1:p.Ile214AsnfsTer8
ENST00000649334.1:c.785dup (FANCC) ENSP00000497735.1:n.785dup
ENST00000649701.1:n.355dup (FANCC)
ENST00000289081.7:c.640dup (FANCC) ENSP00000289081.3:p.Ile214AsnfsTer8
ENST00000375305.5:c.640dup (FANCC) ENSP00000364454.1:p.Ile214AsnfsTer8
ENST00000490972.6:c.640dup (FANCC) ENSP00000479931.1:p.Ile214AsnfsTer8
ENST00000493098.1:n.65dup (FANCC)
NM_000136.2:c.640dup , LRG_497t1:c.640dup (FANCC) NP_000127.2:p.Ile214AsnfsTer8
NM_001243743.1:c.640dup (FANCC) NP_001230672.1:p.Ile214AsnfsTer8
NM_001243744.1:c.640dup (FANCC) NP_001230673.1:p.Ile214AsnfsTer8
XM_006717001.1:c.522-14467dup (FANCC) XP_006717064.1:n.522-14467dup
XM_006717002.2:c.640dup (FANCC) XP_006717065.1:p.Ile214AsnfsTer8
XM_006717004.2:c.640dup (FANCC) XP_006717067.1:p.Ile214AsnfsTer8
XM_011518365.1:c.640dup (FANCC) XP_011516667.1:p.Ile214AsnfsTer8
XM_011518366.1:c.640dup (FANCC) XP_011516668.1:p.Ile214AsnfsTer8
XM_011518367.1:c.184dup (FANCC) XP_011516669.1:p.Ile62AsnfsTer8
XM_006717001.3:c.522-14467dup (FANCC) XP_006717064.1:n.522-14467dup
XM_006717002.4:c.640dup (FANCC) XP_006717065.1:p.Ile214AsnfsTer8
XM_006717004.4:c.640dup (FANCC) XP_006717067.1:p.Ile214AsnfsTer8
XM_011518365.3:c.640dup (FANCC) XP_011516667.1:p.Ile214AsnfsTer8
XM_011518366.3:c.640dup (FANCC) XP_011516668.1:p.Ile214AsnfsTer8
XM_011518367.2:c.184dup (FANCC) XP_011516669.1:p.Ile62AsnfsTer8
XM_017014452.2:c.184dup (FANCC) XP_016869941.1:p.Ile62AsnfsTer8
XM_017014453.1:c.184dup (FANCC) XP_016869942.1:p.Ile62AsnfsTer8
XM_017014454.1:c.66-14467dup (FANCC) XP_016869943.1:n.66-14467dup
XM_024447451.1:c.640dup (FANCC) XP_024303219.1:p.Ile214AsnfsTer8
NM_000136.3:c.640dup (FANCC) MANE Select NP_000127.2:p.Ile214AsnfsTer8
NM_001243743.2:c.640dup (FANCC) NP_001230672.1:p.Ile214AsnfsTer8
NM_001243744.2:c.640dup (FANCC) NP_001230673.1:p.Ile214AsnfsTer8
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