Canonical Allele Identifier: CA2641640964

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087188-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087192_46087193del , CM000680.2:g.46087192_46087193del	GRCh38
NC_000018.9:g.43667158_43667159del , CM000680.1:g.43667158_43667159del	GRCh37
NC_000018.8:g.41921156_41921157del	NCBI36
NG_041769.1:g.22044_22045del
NG_041769.2:g.27044_27045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.994_995del MANE Select	ENSP00000381736.5:p.Pro332TrpfsTer3
ENST00000282050.6:c.994_995del	ENSP00000282050.2:p.Pro332TrpfsTer3
ENST00000398752.10:c.994_995del	ENSP00000381736.5:p.Pro332TrpfsTer3
ENST00000586523.1:n.1507_1508del
ENST00000586592.5:c.*1057_*1058del	ENSP00000466275.3:n.*1057_*1058del
ENST00000590156.5:c.*890_*891del	ENSP00000466309.1:n.*890_*891del
ENST00000590665.5:c.928_929del	ENSP00000467037.1:p.Pro310TrpfsTer3
ENST00000592364.5:c.227-126_227-125del	ENSP00000468618.1:n.227-126_227-125del
ENST00000593152.6:c.844_845del	ENSP00000465477.2:p.Pro282TrpfsTer3
NM_001001935.2:c.844_845del	NP_001001935.1:p.Pro282TrpfsTer3
NM_001001937.1:c.994_995del	NP_001001937.1:p.Pro332TrpfsTer3
NM_001257334.1:c.928_929del	NP_001244263.1:p.Pro310TrpfsTer3
NM_001257335.1:c.844_845del	NP_001244264.1:p.Pro282TrpfsTer3
NM_004046.5:c.994_995del	NP_004037.1:p.Pro332TrpfsTer3
XM_011526018.1:c.844_845del	XP_011524320.1:p.Pro282TrpfsTer3
XM_017025789.1:c.994_995del	XP_016881278.1:p.Pro332TrpfsTer3
NM_004046.6:c.994_995del MANE Select	NP_004037.1:p.Pro332TrpfsTer3
NM_001001935.3:c.844_845del	NP_001001935.1:p.Pro282TrpfsTer3
NM_001257334.2:c.928_929del	NP_001244263.1:p.Pro310TrpfsTer3
NM_001001937.2:c.994_995del	NP_001001937.1:p.Pro332TrpfsTer3
NM_001257335.2:c.844_845del	NP_001244264.1:p.Pro282TrpfsTer3