Canonical Allele Identifier: CA2690789431

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111420-C-CACATG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111420_95111421insACATG , CM000671.2:g.95111420_95111421insACATG	GRCh38
NC_000009.11:g.97873702_97873703insACATG , CM000671.1:g.97873702_97873703insACATG	GRCh37
NC_000009.10:g.96913523_96913524insACATG	NCBI36
NG_011707.1:g.211289_211290insCATGT , LRG_497:g.211289_211290insCATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30640_410+30641insACATG (AOPEP)
ENST00000696260.1:n.2144+42_2144+43insCATGT (FANCC)
ENST00000289081.8:c.1329+42_1329+43insCATGT (FANCC) MANE Select	ENSP00000289081.3:n.1329+42_1329+43insCAT...
ENST00000375305.6:c.1329+42_1329+43insCATGT (FANCC)	ENSP00000364454.1:n.1329+42_1329+43insCAT...
ENST00000490972.7:c.1329+42_1329+43insCATGT (FANCC)	ENSP00000479931.1:n.1329+42_1329+43insCAT...
ENST00000649334.1:c.1474+42_1474+43insCATGT (FANCC)	ENSP00000497735.1:n.1474+42_1474+43insCAT...
ENST00000289081.7:c.1329+42_1329+43insCATGT (FANCC)	ENSP00000289081.3:n.1329+42_1329+43insCAT...
ENST00000375305.5:c.1329+42_1329+43insCATGT (FANCC)	ENSP00000364454.1:n.1329+42_1329+43insCAT...
ENST00000464627.5:n.656+42_656+43insCATGT (FANCC)
ENST00000477942.5:n.684+42_684+43insCATGT (FANCC)
ENST00000480712.5:n.514+42_514+43insCATGT (FANCC)
ENST00000490972.6:c.1329+42_1329+43insCATGT (FANCC)	ENSP00000479931.1:n.1329+42_1329+43insCAT...
NM_000136.2:c.1329+42_1329+43insCATGT , LRG_497t1:c.1329+42_1329+43insCATGT (FANCC)	NP_000127.2:n.1329+42_1329+43insCATGT
NM_001243743.1:c.1329+42_1329+43insCATGT (FANCC)	NP_001230672.1:n.1329+42_1329+43insCATGT
NM_001243744.1:c.1329+42_1329+43insCATGT (FANCC)	NP_001230673.1:n.1329+42_1329+43insCATGT
XM_005251802.2:c.648+42_648+43insCATGT (FANCC)	XP_005251859.1:n.648+42_648+43insCATGT
XM_006717001.1:c.1164+42_1164+43insCATGT (FANCC)	XP_006717064.1:n.1164+42_1164+43insCATGT
XM_006717002.2:c.1329+42_1329+43insCATGT (FANCC)	XP_006717065.1:n.1329+42_1329+43insCATGT
XM_011518365.1:c.1329+42_1329+43insCATGT (FANCC)	XP_011516667.1:n.1329+42_1329+43insCATGT
XM_011518366.1:c.1329+42_1329+43insCATGT (FANCC)	XP_011516668.1:n.1329+42_1329+43insCATGT
XM_011518367.1:c.873+42_873+43insCATGT (FANCC)	XP_011516669.1:n.873+42_873+43insCATGT
XM_011519121.1:c.2319+30640_2319+30641insACATG (AOPEP)	XP_011517423.1:n.2319+30640_2319+30641ins...
XM_005251802.3:c.648+42_648+43insCATGT (FANCC)	XP_005251859.1:n.648+42_648+43insCATGT
XM_006717001.3:c.1164+42_1164+43insCATGT (FANCC)	XP_006717064.1:n.1164+42_1164+43insCATGT
XM_006717002.4:c.1329+42_1329+43insCATGT (FANCC)	XP_006717065.1:n.1329+42_1329+43insCATGT
XM_011518365.3:c.1329+42_1329+43insCATGT (FANCC)	XP_011516667.1:n.1329+42_1329+43insCATGT
XM_011518366.3:c.1329+42_1329+43insCATGT (FANCC)	XP_011516668.1:n.1329+42_1329+43insCATGT
XM_011518367.2:c.873+42_873+43insCATGT (FANCC)	XP_011516669.1:n.873+42_873+43insCATGT
XM_011519121.3:c.2319+30640_2319+30641insACATG (AOPEP)	XP_011517423.1:n.2319+30640_2319+30641ins...
XM_017014452.2:c.873+42_873+43insCATGT (FANCC)	XP_016869941.1:n.873+42_873+43insCATGT
XM_017014453.1:c.873+42_873+43insCATGT (FANCC)	XP_016869942.1:n.873+42_873+43insCATGT
XM_017014454.1:c.708+42_708+43insCATGT (FANCC)	XP_016869943.1:n.708+42_708+43insCATGT
XM_024447451.1:c.1329+42_1329+43insCATGT (FANCC)	XP_024303219.1:n.1329+42_1329+43insCATGT
NM_000136.3:c.1329+42_1329+43insCATGT (FANCC) MANE Select	NP_000127.2:n.1329+42_1329+43insCATGT
NM_001243743.2:c.1329+42_1329+43insCATGT (FANCC)	NP_001230672.1:n.1329+42_1329+43insCATGT
NM_001243744.2:c.1329+42_1329+43insCATGT (FANCC)	NP_001230673.1:n.1329+42_1329+43insCATGT