Canonical Allele Identifier: CA2812346990

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087431del , CM000680.2:g.46087431del	GRCh38
NC_000018.9:g.43667397del , CM000680.1:g.43667397del	GRCh37
NC_000018.8:g.41921395del	NCBI36
NG_041769.1:g.21804del
NG_041769.2:g.26804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.862del MANE Select	ENSP00000381736.5:p.Leu288TrpfsTer21
ENST00000282050.6:c.862del	ENSP00000282050.2:p.Leu288TrpfsTer21
ENST00000398752.10:c.862del	ENSP00000381736.5:p.Leu288TrpfsTer21
ENST00000586523.1:n.1267del
ENST00000586592.5:c.*925del	ENSP00000466275.3:n.*925del
ENST00000589252.5:c.595del	ENSP00000466975.1:p.Leu199TrpfsTer?
ENST00000590156.5:c.*758del	ENSP00000466309.1:n.*758del
ENST00000590665.5:c.796del	ENSP00000467037.1:p.Leu266TrpfsTer21
ENST00000592364.5:c.227-366del	ENSP00000468618.1:n.227-366del
ENST00000593152.6:c.712del	ENSP00000465477.2:p.Leu238TrpfsTer21
NM_001001935.2:c.712del	NP_001001935.1:p.Leu238TrpfsTer21
NM_001001937.1:c.862del	NP_001001937.1:p.Leu288TrpfsTer21
NM_001257334.1:c.796del	NP_001244263.1:p.Leu266TrpfsTer21
NM_001257335.1:c.712del	NP_001244264.1:p.Leu238TrpfsTer21
NM_004046.5:c.862del	NP_004037.1:p.Leu288TrpfsTer21
XM_011526018.1:c.712del	XP_011524320.1:p.Leu238TrpfsTer21
XM_017025789.1:c.862del	XP_016881278.1:p.Leu288TrpfsTer21
NM_004046.6:c.862del MANE Select	NP_004037.1:p.Leu288TrpfsTer21
NM_001001935.3:c.712del	NP_001001935.1:p.Leu238TrpfsTer21
NM_001257334.2:c.796del	NP_001244263.1:p.Leu266TrpfsTer21
NM_001001937.2:c.862del	NP_001001937.1:p.Leu288TrpfsTer21
NM_001257335.2:c.712del	NP_001244264.1:p.Leu238TrpfsTer21