Canonical Allele Identifier: CA2785167265

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95106877_95106878del , CM000671.2:g.95106877_95106878del GRCh38
NC_000009.11:g.97869159_97869160del , CM000671.1:g.97869159_97869160del GRCh37
NC_000009.10:g.96908980_96908981del NCBI36
NG_011707.1:g.215833_215834del , LRG_497:g.215833_215834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26097_410+26098del (AOPEP)
ENST00000696260.1:n.2348+189_2348+190del (FANCC)
ENST00000289081.8:c.1533+189_1533+190del (FANCC) MANE Select ENSP00000289081.3:n.1533+189_1533+190del
ENST00000375305.6:c.1533+189_1533+190del (FANCC) ENSP00000364454.1:n.1533+189_1533+190del
ENST00000649334.1:c.1678+189_1678+190del (FANCC) ENSP00000497735.1:n.1678+189_1678+190del
ENST00000289081.7:c.1533+189_1533+190del (FANCC) ENSP00000289081.3:n.1533+189_1533+190del
ENST00000375305.5:c.1533+189_1533+190del (FANCC) ENSP00000364454.1:n.1533+189_1533+190del
NM_000136.2:c.1533+189_1533+190del , LRG_497t1:c.1533+189_1533+190del (FANCC) NP_000127.2:n.1533+189_1533+190del
NM_001243743.1:c.1533+189_1533+190del (FANCC) NP_001230672.1:n.1533+189_1533+190del
XM_005251802.2:c.852+189_852+190del (FANCC) XP_005251859.1:n.852+189_852+190del
XM_006717001.1:c.1368+189_1368+190del (FANCC) XP_006717064.1:n.1368+189_1368+190del
XM_011518365.1:c.1533+189_1533+190del (FANCC) XP_011516667.1:n.1533+189_1533+190del
XM_011518367.1:c.1077+189_1077+190del (FANCC) XP_011516669.1:n.1077+189_1077+190del
XM_011519121.1:c.2319+26097_2319+26098del (AOPEP) XP_011517423.1:n.2319+26097_2319+26098del
XM_005251802.3:c.852+189_852+190del (FANCC) XP_005251859.1:n.852+189_852+190del
XM_006717001.3:c.1368+189_1368+190del (FANCC) XP_006717064.1:n.1368+189_1368+190del
XM_011518365.3:c.1533+189_1533+190del (FANCC) XP_011516667.1:n.1533+189_1533+190del
XM_011518367.2:c.1077+189_1077+190del (FANCC) XP_011516669.1:n.1077+189_1077+190del
XM_011519121.3:c.2319+26097_2319+26098del (AOPEP) XP_011517423.1:n.2319+26097_2319+26098del
XM_017014452.2:c.1077+189_1077+190del (FANCC) XP_016869941.1:n.1077+189_1077+190del
XM_017014453.1:c.1077+189_1077+190del (FANCC) XP_016869942.1:n.1077+189_1077+190del
XM_017014454.1:c.912+189_912+190del (FANCC) XP_016869943.1:n.912+189_912+190del
XM_024447451.1:c.1533+189_1533+190del (FANCC) XP_024303219.1:n.1533+189_1533+190del
XR_001746847.1:n.306-11_306-10del
NM_000136.3:c.1533+189_1533+190del (FANCC) MANE Select NP_000127.2:n.1533+189_1533+190del
NM_001243743.2:c.1533+189_1533+190del (FANCC) NP_001230672.1:n.1533+189_1533+190del