Canonical Allele Identifier: CA2690788175

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95107025-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107027_95107028del , CM000671.2:g.95107027_95107028del	GRCh38
NC_000009.11:g.97869309_97869310del , CM000671.1:g.97869309_97869310del	GRCh37
NC_000009.10:g.96909130_96909131del	NCBI36
NG_011707.1:g.215683_215684del , LRG_497:g.215683_215684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26247_410+26248del (AOPEP)
ENST00000696260.1:n.2348+39_2348+40del (FANCC)
ENST00000289081.8:c.1533+39_1533+40del (FANCC) MANE Select	ENSP00000289081.3:n.1533+39_1533+40del
ENST00000375305.6:c.1533+39_1533+40del (FANCC)	ENSP00000364454.1:n.1533+39_1533+40del
ENST00000649334.1:c.1678+39_1678+40del (FANCC)	ENSP00000497735.1:n.1678+39_1678+40del
ENST00000289081.7:c.1533+39_1533+40del (FANCC)	ENSP00000289081.3:n.1533+39_1533+40del
ENST00000375305.5:c.1533+39_1533+40del (FANCC)	ENSP00000364454.1:n.1533+39_1533+40del
NM_000136.2:c.1533+39_1533+40del , LRG_497t1:c.1533+39_1533+40del (FANCC)	NP_000127.2:n.1533+39_1533+40del
NM_001243743.1:c.1533+39_1533+40del (FANCC)	NP_001230672.1:n.1533+39_1533+40del
XM_005251802.2:c.852+39_852+40del (FANCC)	XP_005251859.1:n.852+39_852+40del
XM_006717001.1:c.1368+39_1368+40del (FANCC)	XP_006717064.1:n.1368+39_1368+40del
XM_011518365.1:c.1533+39_1533+40del (FANCC)	XP_011516667.1:n.1533+39_1533+40del
XM_011518367.1:c.1077+39_1077+40del (FANCC)	XP_011516669.1:n.1077+39_1077+40del
XM_011519121.1:c.2319+26247_2319+26248del (AOPEP)	XP_011517423.1:n.2319+26247_2319+26248del
XM_005251802.3:c.852+39_852+40del (FANCC)	XP_005251859.1:n.852+39_852+40del
XM_006717001.3:c.1368+39_1368+40del (FANCC)	XP_006717064.1:n.1368+39_1368+40del
XM_011518365.3:c.1533+39_1533+40del (FANCC)	XP_011516667.1:n.1533+39_1533+40del
XM_011518367.2:c.1077+39_1077+40del (FANCC)	XP_011516669.1:n.1077+39_1077+40del
XM_011519121.3:c.2319+26247_2319+26248del (AOPEP)	XP_011517423.1:n.2319+26247_2319+26248del
XM_017014452.2:c.1077+39_1077+40del (FANCC)	XP_016869941.1:n.1077+39_1077+40del
XM_017014453.1:c.1077+39_1077+40del (FANCC)	XP_016869942.1:n.1077+39_1077+40del
XM_017014454.1:c.912+39_912+40del (FANCC)	XP_016869943.1:n.912+39_912+40del
XM_024447451.1:c.1533+39_1533+40del (FANCC)	XP_024303219.1:n.1533+39_1533+40del
XR_001746847.1:n.445_446del
NM_000136.3:c.1533+39_1533+40del (FANCC) MANE Select	NP_000127.2:n.1533+39_1533+40del
NM_001243743.2:c.1533+39_1533+40del (FANCC)	NP_001230672.1:n.1533+39_1533+40del