Canonical Allele Identifier: CA2690788300

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95107212-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107213del , CM000671.2:g.95107213del	GRCh38
NC_000009.11:g.97869495del , CM000671.1:g.97869495del	GRCh37
NC_000009.10:g.96909316del	NCBI36
NG_011707.1:g.215497del , LRG_497:g.215497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26433del (AOPEP)
ENST00000696260.1:n.2201del (FANCC)
ENST00000289081.8:c.1386del (FANCC) MANE Select	ENSP00000289081.3:p.Ser463GlnfsTer8
ENST00000375305.6:c.1386del (FANCC)	ENSP00000364454.1:p.Ser463GlnfsTer8
ENST00000649334.1:c.1531del (FANCC)	ENSP00000497735.1:n.1531del
ENST00000289081.7:c.1386del (FANCC)	ENSP00000289081.3:p.Ser463GlnfsTer8
ENST00000375305.5:c.1386del (FANCC)	ENSP00000364454.1:p.Ser463GlnfsTer8
ENST00000464627.5:n.713del (FANCC)
NM_000136.2:c.1386del , LRG_497t1:c.1386del (FANCC)	NP_000127.2:p.Ser463GlnfsTer8
NM_001243743.1:c.1386del (FANCC)	NP_001230672.1:p.Ser463GlnfsTer8
XM_005251802.2:c.705del (FANCC)	XP_005251859.1:p.Ser236GlnfsTer8
XM_006717001.1:c.1221del (FANCC)	XP_006717064.1:p.Ser408GlnfsTer8
XM_011518365.1:c.1386del (FANCC)	XP_011516667.1:p.Ser463GlnfsTer8
XM_011518367.1:c.930del (FANCC)	XP_011516669.1:p.Ser311GlnfsTer8
XM_011519121.1:c.2319+26433del (AOPEP)	XP_011517423.1:n.2319+26433del
XM_005251802.3:c.705del (FANCC)	XP_005251859.1:p.Ser236GlnfsTer8
XM_006717001.3:c.1221del (FANCC)	XP_006717064.1:p.Ser408GlnfsTer8
XM_011518365.3:c.1386del (FANCC)	XP_011516667.1:p.Ser463GlnfsTer8
XM_011518367.2:c.930del (FANCC)	XP_011516669.1:p.Ser311GlnfsTer8
XM_011519121.3:c.2319+26433del (AOPEP)	XP_011517423.1:n.2319+26433del
XM_017014452.2:c.930del (FANCC)	XP_016869941.1:p.Ser311GlnfsTer8
XM_017014453.1:c.930del (FANCC)	XP_016869942.1:p.Ser311GlnfsTer8
XM_017014454.1:c.765del (FANCC)	XP_016869943.1:p.Ser256GlnfsTer8
XM_024447451.1:c.1386del (FANCC)	XP_024303219.1:p.Ser463GlnfsTer8
XR_001746847.1:n.631del
NM_000136.3:c.1386del (FANCC) MANE Select	NP_000127.2:p.Ser463GlnfsTer8
NM_001243743.2:c.1386del (FANCC)	NP_001230672.1:p.Ser463GlnfsTer8