Canonical Allele Identifier: CA2641640967

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087212-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087212_46087213insT , CM000680.2:g.46087212_46087213insT	GRCh38
NC_000018.9:g.43667178_43667179insT , CM000680.1:g.43667178_43667179insT	GRCh37
NC_000018.8:g.41921176_41921177insT	NCBI36
NG_041769.1:g.22021_22022insA
NG_041769.2:g.27021_27022insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.971_972insA MANE Select	ENSP00000381736.5:p.Met324IlefsTer12
ENST00000282050.6:c.971_972insA	ENSP00000282050.2:p.Met324IlefsTer12
ENST00000398752.10:c.971_972insA	ENSP00000381736.5:p.Met324IlefsTer12
ENST00000586523.1:n.1484_1485insA
ENST00000586592.5:c.*1034_*1035insA	ENSP00000466275.3:n.*1034_*1035insA
ENST00000590156.5:c.*867_*868insA	ENSP00000466309.1:n.*867_*868insA
ENST00000590665.5:c.905_906insA	ENSP00000467037.1:p.Met302IlefsTer12
ENST00000592364.5:c.227-149_227-148insA	ENSP00000468618.1:n.227-149_227-148insA
ENST00000593152.6:c.821_822insA	ENSP00000465477.2:p.Met274IlefsTer12
NM_001001935.2:c.821_822insA	NP_001001935.1:p.Met274IlefsTer12
NM_001001937.1:c.971_972insA	NP_001001937.1:p.Met324IlefsTer12
NM_001257334.1:c.905_906insA	NP_001244263.1:p.Met302IlefsTer12
NM_001257335.1:c.821_822insA	NP_001244264.1:p.Met274IlefsTer12
NM_004046.5:c.971_972insA	NP_004037.1:p.Met324IlefsTer12
XM_011526018.1:c.821_822insA	XP_011524320.1:p.Met274IlefsTer12
XM_017025789.1:c.971_972insA	XP_016881278.1:p.Met324IlefsTer12
NM_004046.6:c.971_972insA MANE Select	NP_004037.1:p.Met324IlefsTer12
NM_001001935.3:c.821_822insA	NP_001001935.1:p.Met274IlefsTer12
NM_001257334.2:c.905_906insA	NP_001244263.1:p.Met302IlefsTer12
NM_001001937.2:c.971_972insA	NP_001001937.1:p.Met324IlefsTer12
NM_001257335.2:c.821_822insA	NP_001244264.1:p.Met274IlefsTer12