Canonical Allele Identifier: CA2300669063
Gene: ATP5F1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46086985_46086986delinsTC , CM000680.2:g.46086985_46086986delinsTC GRCh38
NC_000018.9:g.43666951_43666952delinsTC , CM000680.1:g.43666951_43666952delinsTC GRCh37
NC_000018.8:g.41920949_41920950delinsTC NCBI36
NG_041769.1:g.22248_22249delinsGA
NG_041769.2:g.27248_27249delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.1176+22_1176+23delinsGA MANE Select ENSP00000381736.5:n.1176+22_1176+23delinsGA
ENST00000282050.6:c.1176+22_1176+23delinsGA ENSP00000282050.2:n.1176+22_1176+23delinsGA
ENST00000398752.10:c.1176+22_1176+23delinsGA ENSP00000381736.5:n.1176+22_1176+23delinsGA
ENST00000586523.1:n.1711_1712delinsGA
ENST00000586592.5:c.*1239+22_*1239+23delinsGA ENSP00000466275.3:n.*1239+22_*1239+23delinsGA
ENST00000590156.5:c.*1072+22_*1072+23delinsGA ENSP00000466309.1:n.*1072+22_*1072+23delinsGA
ENST00000590665.5:c.1110+22_1110+23delinsGA ENSP00000467037.1:n.1110+22_1110+23delinsGA
ENST00000592364.5:c.*49+22_*49+23delinsGA ENSP00000468618.1:n.*49+22_*49+23delinsGA
ENST00000593152.6:c.1026+22_1026+23delinsGA ENSP00000465477.2:n.1026+22_1026+23delinsGA
NM_001001935.2:c.1026+22_1026+23delinsGA NP_001001935.1:n.1026+22_1026+23delinsGA
NM_001001937.1:c.1176+22_1176+23delinsGA NP_001001937.1:n.1176+22_1176+23delinsGA
NM_001257334.1:c.1110+22_1110+23delinsGA NP_001244263.1:n.1110+22_1110+23delinsGA
NM_001257335.1:c.1026+22_1026+23delinsGA NP_001244264.1:n.1026+22_1026+23delinsGA
NM_004046.5:c.1176+22_1176+23delinsGA NP_004037.1:n.1176+22_1176+23delinsGA
XM_011526018.1:c.1026+22_1026+23delinsGA XP_011524320.1:n.1026+22_1026+23delinsGA
XM_017025789.1:c.1176+22_1176+23delinsGA XP_016881278.1:n.1176+22_1176+23delinsGA
NM_004046.6:c.1176+22_1176+23delinsGA MANE Select NP_004037.1:n.1176+22_1176+23delinsGA
NM_001001935.3:c.1026+22_1026+23delinsGA NP_001001935.1:n.1026+22_1026+23delinsGA
NM_001257334.2:c.1110+22_1110+23delinsGA NP_001244263.1:n.1110+22_1110+23delinsGA
NM_001001937.2:c.1176+22_1176+23delinsGA NP_001001937.1:n.1176+22_1176+23delinsGA
NM_001257335.2:c.1026+22_1026+23delinsGA NP_001244264.1:n.1026+22_1026+23delinsGA