Canonical Allele Identifier: CA8950989
Gene: ATP5F1A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46098188_46098190del , CM000680.2:g.46098188_46098190del GRCh38
NC_000018.9:g.43678154_43678156del , CM000680.1:g.43678154_43678156del GRCh37
NC_000018.8:g.41932152_41932154del NCBI36
NG_041769.1:g.11046_11048del
NG_041769.2:g.16046_16048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.44_46del MANE Select ENSP00000381736.5:p.Pro15del
ENST00000282050.6:c.44_46del ENSP00000282050.2:p.Pro15del
ENST00000398752.10:c.44_46del ENSP00000381736.5:p.Pro15del
ENST00000585650.1:c.38+1115_38+1117del ENSP00000467983.1:n.38+1115_38+1117del
ENST00000586592.5:c.44_46del ENSP00000466275.3:p.Pro15del
ENST00000588390.1:n.108_110del
ENST00000589252.5:c.44_46del ENSP00000466975.1:p.Pro15del
ENST00000589869.5:c.-90-3057_-90-3055del ENSP00000465497.1:n.-90-3057_-90-3055del
ENST00000590156.5:c.44_46del ENSP00000466309.1:p.Pro15del
ENST00000590324.5:c.-276-3057_-276-3055del ENSP00000465259.1:n.-276-3057_-276-3055del
ENST00000590406.5:c.44_46del ENSP00000468458.1:p.Pro15del
ENST00000590448.5:n.118-3057_118-3055del
ENST00000590665.5:c.44_46del ENSP00000467037.1:p.Pro15del
ENST00000591267.1:n.109_111del
ENST00000591981.5:c.44_46del ENSP00000465805.2:p.Pro15del
ENST00000592364.5:c.44_46del ENSP00000468618.1:p.Pro15del
ENST00000592989.1:c.-82-3065_-82-3063del ENSP00000467830.1:n.-82-3065_-82-3063del
ENST00000593152.6:c.-443_-441del ENSP00000465477.2:n.-443_-441del
NM_001001935.2:c.-180_-178del NP_001001935.1:n.-180_-178del
NM_001001937.1:c.44_46del NP_001001937.1:p.Pro15del
NM_001257334.1:c.44_46del NP_001244263.1:p.Pro15del
NM_001257335.1:c.-443_-441del NP_001244264.1:n.-443_-441del
NM_004046.5:c.44_46del NP_004037.1:p.Pro15del
XM_011526018.1:c.-90-3057_-90-3055del XP_011524320.1:n.-90-3057_-90-3055del
XM_017025789.1:c.44_46del XP_016881278.1:p.Pro15del
NM_004046.6:c.44_46del MANE Select NP_004037.1:p.Pro15del
NM_001001935.3:c.-180_-178del NP_001001935.1:n.-180_-178del
NM_001257334.2:c.44_46del NP_001244263.1:p.Pro15del
NM_001001937.2:c.44_46del NP_001001937.1:p.Pro15del
NM_001257335.2:c.-443_-441del NP_001244264.1:n.-443_-441del