Canonical Allele Identifier: CA2785167318

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107359_95107361del , CM000671.2:g.95107359_95107361del GRCh38
NC_000009.11:g.97869641_97869643del , CM000671.1:g.97869641_97869643del GRCh37
NC_000009.10:g.96909462_96909464del NCBI36
NG_011707.1:g.215349_215351del , LRG_497:g.215349_215351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26579_410+26581del (AOPEP)
ENST00000696260.1:n.2145-92_2145-90del (FANCC)
ENST00000289081.8:c.1330-92_1330-90del (FANCC) MANE Select ENSP00000289081.3:n.1330-92_1330-90del
ENST00000375305.6:c.1330-92_1330-90del (FANCC) ENSP00000364454.1:n.1330-92_1330-90del
ENST00000649334.1:c.1475-92_1475-90del (FANCC) ENSP00000497735.1:n.1475-92_1475-90del
ENST00000289081.7:c.1330-92_1330-90del (FANCC) ENSP00000289081.3:n.1330-92_1330-90del
ENST00000375305.5:c.1330-92_1330-90del (FANCC) ENSP00000364454.1:n.1330-92_1330-90del
ENST00000464627.5:n.657-92_657-90del (FANCC)
ENST00000480712.5:n.667_669del (FANCC)
NM_000136.2:c.1330-92_1330-90del , LRG_497t1:c.1330-92_1330-90del (FANCC) NP_000127.2:n.1330-92_1330-90del
NM_001243743.1:c.1330-92_1330-90del (FANCC) NP_001230672.1:n.1330-92_1330-90del
XM_005251802.2:c.649-92_649-90del (FANCC) XP_005251859.1:n.649-92_649-90del
XM_006717001.1:c.1165-92_1165-90del (FANCC) XP_006717064.1:n.1165-92_1165-90del
XM_006717002.2:c.*117_*119del (FANCC) XP_006717065.1:n.*117_*119del
XM_011518365.1:c.1330-92_1330-90del (FANCC) XP_011516667.1:n.1330-92_1330-90del
XM_011518367.1:c.874-92_874-90del (FANCC) XP_011516669.1:n.874-92_874-90del
XM_011519121.1:c.2319+26579_2319+26581del (AOPEP) XP_011517423.1:n.2319+26579_2319+26581del
XM_005251802.3:c.649-92_649-90del (FANCC) XP_005251859.1:n.649-92_649-90del
XM_006717001.3:c.1165-92_1165-90del (FANCC) XP_006717064.1:n.1165-92_1165-90del
XM_006717002.4:c.*117_*119del (FANCC) XP_006717065.1:n.*117_*119del
XM_011518365.3:c.1330-92_1330-90del (FANCC) XP_011516667.1:n.1330-92_1330-90del
XM_011518367.2:c.874-92_874-90del (FANCC) XP_011516669.1:n.874-92_874-90del
XM_011519121.3:c.2319+26579_2319+26581del (AOPEP) XP_011517423.1:n.2319+26579_2319+26581del
XM_017014452.2:c.874-92_874-90del (FANCC) XP_016869941.1:n.874-92_874-90del
XM_017014453.1:c.874-92_874-90del (FANCC) XP_016869942.1:n.874-92_874-90del
XM_017014454.1:c.709-92_709-90del (FANCC) XP_016869943.1:n.709-92_709-90del
XM_024447451.1:c.1330-92_1330-90del (FANCC) XP_024303219.1:n.1330-92_1330-90del
XR_001746847.1:n.777_779del
NM_000136.3:c.1330-92_1330-90del (FANCC) MANE Select NP_000127.2:n.1330-92_1330-90del
NM_001243743.2:c.1330-92_1330-90del (FANCC) NP_001230672.1:n.1330-92_1330-90del