Canonical Allele Identifier: CA2641640969

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087230-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087231del , CM000680.2:g.46087231del	GRCh38
NC_000018.9:g.43667197del , CM000680.1:g.43667197del	GRCh37
NC_000018.8:g.41921195del	NCBI36
NG_041769.1:g.22003del
NG_041769.2:g.27003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.953del MANE Select	ENSP00000381736.5:p.Ala318ValfsTer?
ENST00000282050.6:c.953del	ENSP00000282050.2:p.Ala318ValfsTer?
ENST00000398752.10:c.953del	ENSP00000381736.5:p.Ala318ValfsTer?
ENST00000586523.1:n.1466del
ENST00000586592.5:c.*1016del	ENSP00000466275.3:n.*1016del
ENST00000590156.5:c.*849del	ENSP00000466309.1:n.*849del
ENST00000590665.5:c.887del	ENSP00000467037.1:p.Ala296ValfsTer?
ENST00000592364.5:c.227-167del	ENSP00000468618.1:n.227-167del
ENST00000593152.6:c.803del	ENSP00000465477.2:p.Ala268ValfsTer?
NM_001001935.2:c.803del	NP_001001935.1:p.Ala268ValfsTer?
NM_001001937.1:c.953del	NP_001001937.1:p.Ala318ValfsTer?
NM_001257334.1:c.887del	NP_001244263.1:p.Ala296ValfsTer?
NM_001257335.1:c.803del	NP_001244264.1:p.Ala268ValfsTer?
NM_004046.5:c.953del	NP_004037.1:p.Ala318ValfsTer?
XM_011526018.1:c.803del	XP_011524320.1:p.Ala268ValfsTer?
XM_017025789.1:c.953del	XP_016881278.1:p.Ala318ValfsTer?
NM_004046.6:c.953del MANE Select	NP_004037.1:p.Ala318ValfsTer?
NM_001001935.3:c.803del	NP_001001935.1:p.Ala268ValfsTer?
NM_001257334.2:c.887del	NP_001244263.1:p.Ala296ValfsTer?
NM_001001937.2:c.953del	NP_001001937.1:p.Ala318ValfsTer?
NM_001257335.2:c.803del	NP_001244264.1:p.Ala268ValfsTer?