Canonical Allele Identifier: CA989895094

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1910186450
• gnomAD v3: 18-46087391-TAAA-T
• gnomAD v4: 18-46087391-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087393_46087395del , CM000680.2:g.46087393_46087395del	GRCh38
NC_000018.9:g.43667359_43667361del , CM000680.1:g.43667359_43667361del	GRCh37
NC_000018.8:g.41921357_41921359del	NCBI36
NG_041769.1:g.21840_21842del
NG_041769.2:g.26840_26842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.898_900del MANE Select	ENSP00000381736.5:p.Phe300del
ENST00000282050.6:c.898_900del	ENSP00000282050.2:p.Phe300del
ENST00000398752.10:c.898_900del	ENSP00000381736.5:p.Phe300del
ENST00000586523.1:n.1303_1305del
ENST00000586592.5:c.*961_*963del	ENSP00000466275.3:n.*961_*963del
ENST00000590156.5:c.*794_*796del	ENSP00000466309.1:n.*794_*796del
ENST00000590665.5:c.832_834del	ENSP00000467037.1:p.Phe278del
ENST00000592364.5:c.227-330_227-328del	ENSP00000468618.1:n.227-330_227-328del
ENST00000593152.6:c.748_750del	ENSP00000465477.2:p.Phe250del
NM_001001935.2:c.748_750del	NP_001001935.1:p.Phe250del
NM_001001937.1:c.898_900del	NP_001001937.1:p.Phe300del
NM_001257334.1:c.832_834del	NP_001244263.1:p.Phe278del
NM_001257335.1:c.748_750del	NP_001244264.1:p.Phe250del
NM_004046.5:c.898_900del	NP_004037.1:p.Phe300del
XM_011526018.1:c.748_750del	XP_011524320.1:p.Phe250del
XM_017025789.1:c.898_900del	XP_016881278.1:p.Phe300del
NM_004046.6:c.898_900del MANE Select	NP_004037.1:p.Phe300del
NM_001001935.3:c.748_750del	NP_001001935.1:p.Phe250del
NM_001257334.2:c.832_834del	NP_001244263.1:p.Phe278del
NM_001001937.2:c.898_900del	NP_001001937.1:p.Phe300del
NM_001257335.2:c.748_750del	NP_001244264.1:p.Phe250del