Canonical Allele Identifier: CA1865438145

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs1827524858
• gnomAD v4: 9-95135381-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135384_95135387del , CM000671.2:g.95135384_95135387del	GRCh38
NC_000009.11:g.97897666_97897669del , CM000671.1:g.97897666_97897669del	GRCh37
NC_000009.10:g.96937487_96937490del	NCBI36
NG_011707.1:g.187325_187328del , LRG_497:g.187325_187328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11827_411-11824del (AOPEP)
ENST00000696261.1:n.1195_1198del (FANCC)
ENST00000289081.8:c.804_807del (FANCC) MANE Select	ENSP00000289081.3:p.Cys268Ter
ENST00000375305.6:c.804_807del (FANCC)	ENSP00000364454.1:p.Cys268Ter
ENST00000490972.7:c.804_807del (FANCC)	ENSP00000479931.1:p.Cys268Ter
ENST00000649334.1:c.949_952del (FANCC)	ENSP00000497735.1:n.949_952del
ENST00000649701.1:n.519_522del (FANCC)
ENST00000289081.7:c.804_807del (FANCC)	ENSP00000289081.3:p.Cys268Ter
ENST00000375305.5:c.804_807del (FANCC)	ENSP00000364454.1:p.Cys268Ter
ENST00000477942.5:n.159_162del (FANCC)
ENST00000490972.6:c.804_807del (FANCC)	ENSP00000479931.1:p.Cys268Ter
NM_000136.2:c.804_807del , LRG_497t1:c.804_807del (FANCC)	NP_000127.2:p.Cys268Ter
NM_001243743.1:c.804_807del (FANCC)	NP_001230672.1:p.Cys268Ter
NM_001243744.1:c.804_807del (FANCC)	NP_001230673.1:p.Cys268Ter
XM_005251802.2:c.123_126del (FANCC)	XP_005251859.1:p.Cys41Ter
XM_006717001.1:c.639_642del (FANCC)	XP_006717064.1:p.Cys213Ter
XM_006717002.2:c.804_807del (FANCC)	XP_006717065.1:p.Cys268Ter
XM_006717004.2:c.804_807del (FANCC)	XP_006717067.1:p.Cys268Ter
XM_011518365.1:c.804_807del (FANCC)	XP_011516667.1:p.Cys268Ter
XM_011518366.1:c.804_807del (FANCC)	XP_011516668.1:p.Cys268Ter
XM_011518367.1:c.348_351del (FANCC)	XP_011516669.1:p.Cys116Ter
XM_011519121.1:c.2320-11827_2320-11824del (AOPEP)	XP_011517423.1:n.2320-11827_2320-11824del
XM_005251802.3:c.123_126del (FANCC)	XP_005251859.1:p.Cys41Ter
XM_006717001.3:c.639_642del (FANCC)	XP_006717064.1:p.Cys213Ter
XM_006717002.4:c.804_807del (FANCC)	XP_006717065.1:p.Cys268Ter
XM_006717004.4:c.804_807del (FANCC)	XP_006717067.1:p.Cys268Ter
XM_011518365.3:c.804_807del (FANCC)	XP_011516667.1:p.Cys268Ter
XM_011518366.3:c.804_807del (FANCC)	XP_011516668.1:p.Cys268Ter
XM_011518367.2:c.348_351del (FANCC)	XP_011516669.1:p.Cys116Ter
XM_011519121.3:c.2320-11827_2320-11824del (AOPEP)	XP_011517423.1:n.2320-11827_2320-11824del
XM_017014452.2:c.348_351del (FANCC)	XP_016869941.1:p.Cys116Ter
XM_017014453.1:c.348_351del (FANCC)	XP_016869942.1:p.Cys116Ter
XM_017014454.1:c.183_186del (FANCC)	XP_016869943.1:p.Cys61Ter
XM_024447451.1:c.804_807del (FANCC)	XP_024303219.1:p.Cys268Ter
NM_000136.3:c.804_807del (FANCC) MANE Select	NP_000127.2:p.Cys268Ter
NM_001243743.2:c.804_807del (FANCC)	NP_001230672.1:p.Cys268Ter
NM_001243744.2:c.804_807del (FANCC)	NP_001230673.1:p.Cys268Ter