Canonical Allele Identifier: CA16618876

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 419059
• ClinVar RCV Id: RCV000485198 ; RCV002506162
• dbSNP Id: rs1064793615

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107241_95107244delinsTGGC , CM000671.2:g.95107241_95107244delinsTGGC	GRCh38
NC_000009.11:g.97869523_97869526delinsTGGC , CM000671.1:g.97869523_97869526delinsTGGC	GRCh37
NC_000009.10:g.96909344_96909347delinsTGGC	NCBI36
NG_011707.1:g.215466_215469delinsGCCA , LRG_497:g.215466_215469delinsGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+26461_410+26464delinsTGGC (AOPEP)
ENST00000696260.1:n.2170_2173delinsGCCA (FANCC)
ENST00000289081.8:c.1355_1358delinsGCCA (FANCC) MANE Select	ENSP00000289081.3:p.His452_Leu453delinsArgHis
ENST00000375305.6:c.1355_1358delinsGCCA (FANCC)	ENSP00000364454.1:p.His452_Leu453delinsArgHis
ENST00000649334.1:c.1500_1503delinsGCCA (FANCC)	ENSP00000497735.1:n.1500_1503delinsGCCA
ENST00000289081.7:c.1355_1358delinsGCCA (FANCC)	ENSP00000289081.3:p.His452_Leu453delinsArgHis
ENST00000375305.5:c.1355_1358delinsGCCA (FANCC)	ENSP00000364454.1:p.His452_Leu453delinsArgHis
ENST00000464627.5:n.682_685delinsGCCA (FANCC)
NM_000136.2:c.1355_1358delinsGCCA , LRG_497t1:c.1355_1358delinsGCCA (FANCC)	NP_000127.2:p.His452_Leu453delinsArgHis
NM_001243743.1:c.1355_1358delinsGCCA (FANCC)	NP_001230672.1:p.His452_Leu453delinsArgHis
XM_005251802.2:c.674_677delinsGCCA (FANCC)	XP_005251859.1:p.His225_Leu226delinsArgHis
XM_006717001.1:c.1190_1193delinsGCCA (FANCC)	XP_006717064.1:p.His397_Leu398delinsArgHis
XM_011518365.1:c.1355_1358delinsGCCA (FANCC)	XP_011516667.1:p.His452_Leu453delinsArgHis
XM_011518367.1:c.899_902delinsGCCA (FANCC)	XP_011516669.1:p.His300_Leu301delinsArgHis
XM_011519121.1:c.2319+26461_2319+26464delinsTGGC (AOPEP)	XP_011517423.1:n.2319+26461_2319+26464delinsTGGC
XM_005251802.3:c.674_677delinsGCCA (FANCC)	XP_005251859.1:p.His225_Leu226delinsArgHis
XM_006717001.3:c.1190_1193delinsGCCA (FANCC)	XP_006717064.1:p.His397_Leu398delinsArgHis
XM_011518365.3:c.1355_1358delinsGCCA (FANCC)	XP_011516667.1:p.His452_Leu453delinsArgHis
XM_011518367.2:c.899_902delinsGCCA (FANCC)	XP_011516669.1:p.His300_Leu301delinsArgHis
XM_011519121.3:c.2319+26461_2319+26464delinsTGGC (AOPEP)	XP_011517423.1:n.2319+26461_2319+26464delinsTGGC
XM_017014452.2:c.899_902delinsGCCA (FANCC)	XP_016869941.1:p.His300_Leu301delinsArgHis
XM_017014453.1:c.899_902delinsGCCA (FANCC)	XP_016869942.1:p.His300_Leu301delinsArgHis
XM_017014454.1:c.734_737delinsGCCA (FANCC)	XP_016869943.1:p.His245_Leu246delinsArgHis
XM_024447451.1:c.1355_1358delinsGCCA (FANCC)	XP_024303219.1:p.His452_Leu453delinsArgHis
XR_001746847.1:n.659_662delinsTGGC
NM_000136.3:c.1355_1358delinsGCCA (FANCC) MANE Select	NP_000127.2:p.His452_Leu453delinsArgHis
NM_001243743.2:c.1355_1358delinsGCCA (FANCC)	NP_001230672.1:p.His452_Leu453delinsArgHis