Canonical Allele Identifier: CA299135

Linked Data

dbSNP Id: rs730881710

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107214_95107215del , CM000671.2:g.95107214_95107215del GRCh38
NC_000009.11:g.97869496_97869497del , CM000671.1:g.97869496_97869497del GRCh37
NC_000009.10:g.96909317_96909318del NCBI36
NG_011707.1:g.215498_215499del , LRG_497:g.215498_215499del

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+26434_410+26435del (AOPEP)
ENST00000696260.1:n.2202_2203del (FANCC)
ENST00000289081.8:c.1387_1388del (FANCC) MANE Select ENSP00000289081.3:p.Ala464ProfsTer?
ENST00000375305.6:c.1387_1388del (FANCC) ENSP00000364454.1:p.Ala464ProfsTer?
ENST00000649334.1:c.1532_1533del (FANCC) ENSP00000497735.1:n.1532_1533del
ENST00000289081.7:c.1387_1388del (FANCC) ENSP00000289081.3:p.Ala464ProfsTer?
ENST00000375305.5:c.1387_1388del (FANCC) ENSP00000364454.1:p.Ala464ProfsTer?
ENST00000464627.5:n.714_715del (FANCC)
NM_000136.2:c.1387_1388del , LRG_497t1:c.1387_1388del (FANCC) NP_000127.2:p.Ala464ProfsTer?
NM_001243743.1:c.1387_1388del (FANCC) NP_001230672.1:p.Ala464ProfsTer?
XM_005251802.2:c.706_707del (FANCC) XP_005251859.1:p.Ala237ProfsTer?
XM_006717001.1:c.1222_1223del (FANCC) XP_006717064.1:p.Ala409ProfsTer?
XM_011518365.1:c.1387_1388del (FANCC) XP_011516667.1:p.Ala464ProfsTer?
XM_011518367.1:c.931_932del (FANCC) XP_011516669.1:p.Ala312ProfsTer?
XM_011519121.1:c.2319+26434_2319+26435del (AOPEP) XP_011517423.1:n.2319+26434_2319+26435del...
XM_005251802.3:c.706_707del (FANCC) XP_005251859.1:p.Ala237ProfsTer?
XM_006717001.3:c.1222_1223del (FANCC) XP_006717064.1:p.Ala409ProfsTer?
XM_011518365.3:c.1387_1388del (FANCC) XP_011516667.1:p.Ala464ProfsTer?
XM_011518367.2:c.931_932del (FANCC) XP_011516669.1:p.Ala312ProfsTer?
XM_011519121.3:c.2319+26434_2319+26435del (AOPEP) XP_011517423.1:n.2319+26434_2319+26435del...
XM_017014452.2:c.931_932del (FANCC) XP_016869941.1:p.Ala312ProfsTer?
XM_017014453.1:c.931_932del (FANCC) XP_016869942.1:p.Ala312ProfsTer?
XM_017014454.1:c.766_767del (FANCC) XP_016869943.1:p.Ala257ProfsTer?
XM_024447451.1:c.1387_1388del (FANCC) XP_024303219.1:p.Ala464ProfsTer?
XR_001746847.1:n.632_633del
NM_000136.3:c.1387_1388del (FANCC) MANE Select NP_000127.2:p.Ala464ProfsTer?
NM_001243743.2:c.1387_1388del (FANCC) NP_001230672.1:p.Ala464ProfsTer?