Canonical Allele Identifier: CA2499220001

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1072437
• ClinVar RCV Id: RCV001385163 ; RCV003463004 ; RCV003236895 ; RCV004037669
• dbSNP Id: rs2134456127
• gnomAD v4: 9-95107220-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107221_95107222del , CM000671.2:g.95107221_95107222del	GRCh38
NC_000009.11:g.97869503_97869504del , CM000671.1:g.97869503_97869504del	GRCh37
NC_000009.10:g.96909324_96909325del	NCBI36
NG_011707.1:g.215488_215489del , LRG_497:g.215488_215489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26441_410+26442del (AOPEP)
ENST00000696260.1:n.2192_2193del (FANCC)
ENST00000289081.8:c.1377_1378del (FANCC) MANE Select	ENSP00000289081.3:p.Ser459ArgfsTer?
ENST00000375305.6:c.1377_1378del (FANCC)	ENSP00000364454.1:p.Ser459ArgfsTer?
ENST00000649334.1:c.1522_1523del (FANCC)	ENSP00000497735.1:n.1522_1523del
ENST00000289081.7:c.1377_1378del (FANCC)	ENSP00000289081.3:p.Ser459ArgfsTer?
ENST00000375305.5:c.1377_1378del (FANCC)	ENSP00000364454.1:p.Ser459ArgfsTer?
ENST00000464627.5:n.704_705del (FANCC)
NM_000136.2:c.1377_1378del , LRG_497t1:c.1377_1378del (FANCC)	NP_000127.2:p.Ser459ArgfsTer?
NM_001243743.1:c.1377_1378del (FANCC)	NP_001230672.1:p.Ser459ArgfsTer?
XM_005251802.2:c.696_697del (FANCC)	XP_005251859.1:p.Ser232ArgfsTer?
XM_006717001.1:c.1212_1213del (FANCC)	XP_006717064.1:p.Ser404ArgfsTer?
XM_011518365.1:c.1377_1378del (FANCC)	XP_011516667.1:p.Ser459ArgfsTer?
XM_011518367.1:c.921_922del (FANCC)	XP_011516669.1:p.Ser307ArgfsTer?
XM_011519121.1:c.2319+26441_2319+26442del (AOPEP)	XP_011517423.1:n.2319+26441_2319+26442del
XM_005251802.3:c.696_697del (FANCC)	XP_005251859.1:p.Ser232ArgfsTer?
XM_006717001.3:c.1212_1213del (FANCC)	XP_006717064.1:p.Ser404ArgfsTer?
XM_011518365.3:c.1377_1378del (FANCC)	XP_011516667.1:p.Ser459ArgfsTer?
XM_011518367.2:c.921_922del (FANCC)	XP_011516669.1:p.Ser307ArgfsTer?
XM_011519121.3:c.2319+26441_2319+26442del (AOPEP)	XP_011517423.1:n.2319+26441_2319+26442del
XM_017014452.2:c.921_922del (FANCC)	XP_016869941.1:p.Ser307ArgfsTer?
XM_017014453.1:c.921_922del (FANCC)	XP_016869942.1:p.Ser307ArgfsTer?
XM_017014454.1:c.756_757del (FANCC)	XP_016869943.1:p.Ser252ArgfsTer?
XM_024447451.1:c.1377_1378del (FANCC)	XP_024303219.1:p.Ser459ArgfsTer?
XR_001746847.1:n.639_640del
NM_000136.3:c.1377_1378del (FANCC) MANE Select	NP_000127.2:p.Ser459ArgfsTer?
NM_001243743.2:c.1377_1378del (FANCC)	NP_001230672.1:p.Ser459ArgfsTer?