Canonical Allele Identifier: CA2832579763

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087193dup , CM000680.2:g.46087193dup	GRCh38
NC_000018.9:g.43667159dup , CM000680.1:g.43667159dup	GRCh37
NC_000018.8:g.41921157dup	NCBI36
NG_041769.1:g.22045dup
NG_041769.2:g.27045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.995dup MANE Select	ENSP00000381736.5:p.Gly333TrpfsTer3
ENST00000282050.6:c.995dup	ENSP00000282050.2:p.Gly333TrpfsTer3
ENST00000398752.10:c.995dup	ENSP00000381736.5:p.Gly333TrpfsTer3
ENST00000586523.1:n.1508dup
ENST00000586592.5:c.*1058dup	ENSP00000466275.3:n.*1058dup
ENST00000590156.5:c.*891dup	ENSP00000466309.1:n.*891dup
ENST00000590665.5:c.929dup	ENSP00000467037.1:p.Gly311TrpfsTer3
ENST00000592364.5:c.227-125dup	ENSP00000468618.1:n.227-125dup
ENST00000593152.6:c.845dup	ENSP00000465477.2:p.Gly283TrpfsTer3
NM_001001935.2:c.845dup	NP_001001935.1:p.Gly283TrpfsTer3
NM_001001937.1:c.995dup	NP_001001937.1:p.Gly333TrpfsTer3
NM_001257334.1:c.929dup	NP_001244263.1:p.Gly311TrpfsTer3
NM_001257335.1:c.845dup	NP_001244264.1:p.Gly283TrpfsTer3
NM_004046.5:c.995dup	NP_004037.1:p.Gly333TrpfsTer3
XM_011526018.1:c.845dup	XP_011524320.1:p.Gly283TrpfsTer3
XM_017025789.1:c.995dup	XP_016881278.1:p.Gly333TrpfsTer3
NM_004046.6:c.995dup MANE Select	NP_004037.1:p.Gly333TrpfsTer3
NM_001001935.3:c.845dup	NP_001001935.1:p.Gly283TrpfsTer3
NM_001257334.2:c.929dup	NP_001244263.1:p.Gly311TrpfsTer3
NM_001001937.2:c.995dup	NP_001001937.1:p.Gly333TrpfsTer3
NM_001257335.2:c.845dup	NP_001244264.1:p.Gly283TrpfsTer3