Canonical Allele Identifier: CA2300669027
Gene: ATP5F1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46086919_46086920delinsCA , CM000680.2:g.46086919_46086920delinsCA GRCh38
NC_000018.9:g.43666885_43666886delinsCA , CM000680.1:g.43666885_43666886delinsCA GRCh37
NC_000018.8:g.41920883_41920884delinsCA NCBI36
NG_041769.1:g.22314_22315delinsTG
NG_041769.2:g.27314_27315delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.1176+88_1176+89delinsTG MANE Select ENSP00000381736.5:n.1176+88_1176+89delinsTG
ENST00000282050.6:c.1176+88_1176+89delinsTG ENSP00000282050.2:n.1176+88_1176+89delinsTG
ENST00000398752.10:c.1176+88_1176+89delinsTG ENSP00000381736.5:n.1176+88_1176+89delinsTG
ENST00000586523.1:n.1777_1778delinsTG
ENST00000586592.5:c.*1239+88_*1239+89delinsTG ENSP00000466275.3:n.*1239+88_*1239+89delinsTG
ENST00000590156.5:c.*1072+88_*1072+89delinsTG ENSP00000466309.1:n.*1072+88_*1072+89delinsTG
ENST00000590665.5:c.1110+88_1110+89delinsTG ENSP00000467037.1:n.1110+88_1110+89delinsTG
ENST00000592364.5:c.*49+88_*49+89delinsTG ENSP00000468618.1:n.*49+88_*49+89delinsTG
ENST00000593152.6:c.1026+88_1026+89delinsTG ENSP00000465477.2:n.1026+88_1026+89delinsTG
NM_001001935.2:c.1026+88_1026+89delinsTG NP_001001935.1:n.1026+88_1026+89delinsTG
NM_001001937.1:c.1176+88_1176+89delinsTG NP_001001937.1:n.1176+88_1176+89delinsTG
NM_001257334.1:c.1110+88_1110+89delinsTG NP_001244263.1:n.1110+88_1110+89delinsTG
NM_001257335.1:c.1026+88_1026+89delinsTG NP_001244264.1:n.1026+88_1026+89delinsTG
NM_004046.5:c.1176+88_1176+89delinsTG NP_004037.1:n.1176+88_1176+89delinsTG
XM_011526018.1:c.1026+88_1026+89delinsTG XP_011524320.1:n.1026+88_1026+89delinsTG
XM_017025789.1:c.1176+88_1176+89delinsTG XP_016881278.1:n.1176+88_1176+89delinsTG
NM_004046.6:c.1176+88_1176+89delinsTG MANE Select NP_004037.1:n.1176+88_1176+89delinsTG
NM_001001935.3:c.1026+88_1026+89delinsTG NP_001001935.1:n.1026+88_1026+89delinsTG
NM_001257334.2:c.1110+88_1110+89delinsTG NP_001244263.1:n.1110+88_1110+89delinsTG
NM_001001937.2:c.1176+88_1176+89delinsTG NP_001001937.1:n.1176+88_1176+89delinsTG
NM_001257335.2:c.1026+88_1026+89delinsTG NP_001244264.1:n.1026+88_1026+89delinsTG