Canonical Allele Identifier: CA2573053198

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1338426
• ClinVar RCV Id: RCV001817797
• dbSNP Id: rs2134382487

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101751_95101753del , CM000671.2:g.95101751_95101753del	GRCh38
NC_000009.11:g.97864033_97864035del , CM000671.1:g.97864033_97864035del	GRCh37
NC_000009.10:g.96903854_96903856del	NCBI36
NG_011707.1:g.220959_220961del , LRG_497:g.220959_220961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20971_410+20973del (AOPEP)
ENST00000696260.1:n.2448_2450del (FANCC)
ENST00000289081.8:c.1633_1635del (FANCC) MANE Select	ENSP00000289081.3:p.Lys545del
ENST00000375305.6:c.1633_1635del (FANCC)	ENSP00000364454.1:p.Lys545del
ENST00000649334.1:c.1778_1780del (FANCC)	ENSP00000497735.1:n.1778_1780del
ENST00000289081.7:c.1633_1635del (FANCC)	ENSP00000289081.3:p.Lys545del
ENST00000375305.5:c.1633_1635del (FANCC)	ENSP00000364454.1:p.Lys545del
NM_000136.2:c.1633_1635del , LRG_497t1:c.1633_1635del (FANCC)	NP_000127.2:p.Lys545del
NM_001243743.1:c.1633_1635del (FANCC)	NP_001230672.1:p.Lys545del
XM_005251802.2:c.952_954del (FANCC)	XP_005251859.1:p.Lys318del
XM_006717001.1:c.1468_1470del (FANCC)	XP_006717064.1:p.Lys490del
XM_011518365.1:c.1633_1635del (FANCC)	XP_011516667.1:p.Lys545del
XM_011518367.1:c.1177_1179del (FANCC)	XP_011516669.1:p.Lys393del
XM_011519121.1:c.2319+20971_2319+20973del (AOPEP)	XP_011517423.1:n.2319+20971_2319+20973del
XM_005251802.3:c.952_954del (FANCC)	XP_005251859.1:p.Lys318del
XM_006717001.3:c.1468_1470del (FANCC)	XP_006717064.1:p.Lys490del
XM_011518365.3:c.1633_1635del (FANCC)	XP_011516667.1:p.Lys545del
XM_011518367.2:c.1177_1179del (FANCC)	XP_011516669.1:p.Lys393del
XM_011519121.3:c.2319+20971_2319+20973del (AOPEP)	XP_011517423.1:n.2319+20971_2319+20973del
XM_017014452.2:c.1177_1179del (FANCC)	XP_016869941.1:p.Lys393del
XM_017014453.1:c.1177_1179del (FANCC)	XP_016869942.1:p.Lys393del
XM_017014454.1:c.1012_1014del (FANCC)	XP_016869943.1:p.Lys338del
XM_024447451.1:c.1633_1635del (FANCC)	XP_024303219.1:p.Lys545del
NM_000136.3:c.1633_1635del (FANCC) MANE Select	NP_000127.2:p.Lys545del
NM_001243743.2:c.1633_1635del (FANCC)	NP_001230672.1:p.Lys545del