Canonical Allele Identifier: CA913160923

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101830_95101835del , CM000671.2:g.95101830_95101835del GRCh38
NC_000009.11:g.97864112_97864117del , CM000671.1:g.97864112_97864117del GRCh37
NC_000009.10:g.96903933_96903938del NCBI36
NG_011707.1:g.220875_220880del , LRG_497:g.220875_220880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+21050_410+21055del (AOPEP)
ENST00000696260.1:n.2364_2369del (FANCC)
ENST00000289081.8:c.1549_1554del (FANCC) MANE Select ENSP00000289081.3:p.Glu517_Ile518del
ENST00000375305.6:c.1549_1554del (FANCC) ENSP00000364454.1:p.Glu517_Ile518del
ENST00000649334.1:c.1694_1699del (FANCC) ENSP00000497735.1:n.1694_1699del
ENST00000289081.7:c.1549_1554del (FANCC) ENSP00000289081.3:p.Glu517_Ile518del
ENST00000375305.5:c.1549_1554del (FANCC) ENSP00000364454.1:p.Glu517_Ile518del
NM_000136.2:c.1549_1554del , LRG_497t1:c.1549_1554del (FANCC) NP_000127.2:p.Glu517_Ile518del
NM_001243743.1:c.1549_1554del (FANCC) NP_001230672.1:p.Glu517_Ile518del
XM_005251802.2:c.868_873del (FANCC) XP_005251859.1:p.Glu290_Ile291del
XM_006717001.1:c.1384_1389del (FANCC) XP_006717064.1:p.Glu462_Ile463del
XM_011518365.1:c.1549_1554del (FANCC) XP_011516667.1:p.Glu517_Ile518del
XM_011518367.1:c.1093_1098del (FANCC) XP_011516669.1:p.Glu365_Ile366del
XM_011519121.1:c.2319+21050_2319+21055del (AOPEP) XP_011517423.1:n.2319+21050_2319+21055del
XM_005251802.3:c.868_873del (FANCC) XP_005251859.1:p.Glu290_Ile291del
XM_006717001.3:c.1384_1389del (FANCC) XP_006717064.1:p.Glu462_Ile463del
XM_011518365.3:c.1549_1554del (FANCC) XP_011516667.1:p.Glu517_Ile518del
XM_011518367.2:c.1093_1098del (FANCC) XP_011516669.1:p.Glu365_Ile366del
XM_011519121.3:c.2319+21050_2319+21055del (AOPEP) XP_011517423.1:n.2319+21050_2319+21055del
XM_017014452.2:c.1093_1098del (FANCC) XP_016869941.1:p.Glu365_Ile366del
XM_017014453.1:c.1093_1098del (FANCC) XP_016869942.1:p.Glu365_Ile366del
XM_017014454.1:c.928_933del (FANCC) XP_016869943.1:p.Glu310_Ile311del
XM_024447451.1:c.1549_1554del (FANCC) XP_024303219.1:p.Glu517_Ile518del
NM_000136.3:c.1549_1554del (FANCC) MANE Select NP_000127.2:p.Glu517_Ile518del
NM_001243743.2:c.1549_1554del (FANCC) NP_001230672.1:p.Glu517_Ile518del