Canonical Allele Identifier: CA16041344

Linked Data

ClinVar Variation Id: 370818
ClinVar RCV Id: RCV000410893
dbSNP Id: rs1057516792

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95135361del , CM000671.2:g.95135361del GRCh38
NC_000009.11:g.97897643del , CM000671.1:g.97897643del GRCh37
NC_000009.10:g.96937464del NCBI36
NG_011707.1:g.187352del , LRG_497:g.187352del

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.411-11850del (AOPEP)
ENST00000696261.1:n.1222del (FANCC)
ENST00000289081.8:c.831del (FANCC) MANE Select ENSP00000289081.3:p.Asp278IlefsTer?
ENST00000375305.6:c.831del (FANCC) ENSP00000364454.1:p.Asp278IlefsTer?
ENST00000490972.7:c.831del (FANCC) ENSP00000479931.1:p.Asp278IlefsTer?
ENST00000649334.1:c.976del (FANCC) ENSP00000497735.1:n.976del
ENST00000649701.1:n.546del (FANCC)
ENST00000289081.7:c.831del (FANCC) ENSP00000289081.3:p.Asp278IlefsTer?
ENST00000375305.5:c.831del (FANCC) ENSP00000364454.1:p.Asp278IlefsTer?
ENST00000477942.5:n.186del (FANCC)
ENST00000480712.5:n.16del (FANCC)
ENST00000490972.6:c.831del (FANCC) ENSP00000479931.1:p.Asp278IlefsTer?
NM_000136.2:c.831del , LRG_497t1:c.831del (FANCC) NP_000127.2:p.Asp278IlefsTer?
NM_001243743.1:c.831del (FANCC) NP_001230672.1:p.Asp278IlefsTer?
NM_001243744.1:c.831del (FANCC) NP_001230673.1:p.Asp278IlefsTer?
XM_005251802.2:c.150del (FANCC) XP_005251859.1:p.Asp51IlefsTer?
XM_006717001.1:c.666del (FANCC) XP_006717064.1:p.Asp223IlefsTer?
XM_006717002.2:c.831del (FANCC) XP_006717065.1:p.Asp278IlefsTer?
XM_006717004.2:c.831del (FANCC) XP_006717067.1:p.Asp278IlefsTer?
XM_011518365.1:c.831del (FANCC) XP_011516667.1:p.Asp278IlefsTer?
XM_011518366.1:c.831del (FANCC) XP_011516668.1:p.Asp278IlefsTer?
XM_011518367.1:c.375del (FANCC) XP_011516669.1:p.Asp126IlefsTer?
XM_011519121.1:c.2320-11850del (AOPEP) XP_011517423.1:n.2320-11850del
XM_005251802.3:c.150del (FANCC) XP_005251859.1:p.Asp51IlefsTer?
XM_006717001.3:c.666del (FANCC) XP_006717064.1:p.Asp223IlefsTer?
XM_006717002.4:c.831del (FANCC) XP_006717065.1:p.Asp278IlefsTer?
XM_006717004.4:c.831del (FANCC) XP_006717067.1:p.Asp278IlefsTer?
XM_011518365.3:c.831del (FANCC) XP_011516667.1:p.Asp278IlefsTer?
XM_011518366.3:c.831del (FANCC) XP_011516668.1:p.Asp278IlefsTer?
XM_011518367.2:c.375del (FANCC) XP_011516669.1:p.Asp126IlefsTer?
XM_011519121.3:c.2320-11850del (AOPEP) XP_011517423.1:n.2320-11850del
XM_017014452.2:c.375del (FANCC) XP_016869941.1:p.Asp126IlefsTer?
XM_017014453.1:c.375del (FANCC) XP_016869942.1:p.Asp126IlefsTer?
XM_017014454.1:c.210del (FANCC) XP_016869943.1:p.Asp71IlefsTer?
XM_024447451.1:c.831del (FANCC) XP_024303219.1:p.Asp278IlefsTer?
NM_000136.3:c.831del (FANCC) MANE Select NP_000127.2:p.Asp278IlefsTer?
NM_001243743.2:c.831del (FANCC) NP_001230672.1:p.Asp278IlefsTer?
NM_001243744.2:c.831del (FANCC) NP_001230673.1:p.Asp278IlefsTer?