Canonical Allele Identifier: CA1865419500

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2675470
• ClinVar RCV Id: RCV003460181
• dbSNP Id: rs2072240134
• gnomAD v4: 9-95114627-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114630del , CM000671.2:g.95114630del	GRCh38
NC_000009.11:g.97876912del , CM000671.1:g.97876912del	GRCh37
NC_000009.10:g.96916733del	NCBI36
NG_011707.1:g.208082del , LRG_497:g.208082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-32581del (AOPEP)
ENST00000289081.8:c.1154+1del (FANCC)
ENST00000375305.6:c.1154+1del (FANCC)
ENST00000490972.7:c.1154+1del (FANCC)
ENST00000649334.1:c.1299+1del (FANCC)
ENST00000289081.7:c.1154+1del (FANCC)
ENST00000375305.5:c.1154+1del (FANCC)
ENST00000464627.5:n.481+1del (FANCC)
ENST00000464653.1:n.1151del (FANCC)
ENST00000477942.5:n.509+1del (FANCC)
ENST00000480712.5:n.339+1del (FANCC)
ENST00000490972.6:c.1154+1del (FANCC)
NM_000136.2:c.1154+1del , LRG_497t1:c.1154+1del (FANCC)
NM_001243743.1:c.1154+1del (FANCC)
NM_001243744.1:c.1154+1del (FANCC)
XM_005251802.2:c.473+1del (FANCC)
XM_006717001.1:c.989+1del (FANCC)
XM_006717002.2:c.1154+1del (FANCC)
XM_006717004.2:c.*49+1del (FANCC)
XM_011518365.1:c.1154+1del (FANCC)
XM_011518366.1:c.1154+1del (FANCC)
XM_011518367.1:c.698+1del (FANCC)
XM_011519121.1:c.2320-32581del (AOPEP)	XP_011517423.1:n.2320-32581del
XM_005251802.3:c.473+1del (FANCC)
XM_006717001.3:c.989+1del (FANCC)
XM_006717002.4:c.1154+1del (FANCC)
XM_006717004.4:c.*49+1del (FANCC)
XM_011518365.3:c.1154+1del (FANCC)
XM_011518366.3:c.1154+1del (FANCC)
XM_011518367.2:c.698+1del (FANCC)
XM_011519121.3:c.2320-32581del (AOPEP)	XP_011517423.1:n.2320-32581del
XM_017014452.2:c.698+1del (FANCC)
XM_017014453.1:c.698+1del (FANCC)
XM_017014454.1:c.533+1del (FANCC)
XM_024447451.1:c.1154+1del (FANCC)
NM_000136.3:c.1154+1del (FANCC)
NM_001243743.2:c.1154+1del (FANCC)
NM_001243744.2:c.1154+1del (FANCC)