Canonical Allele Identifier: CA2641640988
Gene: ATP5F1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087305_46087312del , CM000680.2:g.46087305_46087312del GRCh38
NC_000018.9:g.43667271_43667278del , CM000680.1:g.43667271_43667278del GRCh37
NC_000018.8:g.41921269_41921276del NCBI36
NG_041769.1:g.21923_21930del
NG_041769.2:g.26923_26930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.951+30_951+37del MANE Select ENSP00000381736.5:n.951+30_951+37del
ENST00000282050.6:c.951+30_951+37del ENSP00000282050.2:n.951+30_951+37del
ENST00000398752.10:c.951+30_951+37del ENSP00000381736.5:n.951+30_951+37del
ENST00000586523.1:n.1386_1393del
ENST00000586592.5:c.*1014+30_*1014+37del ENSP00000466275.3:n.*1014+30_*1014+37del
ENST00000590156.5:c.*847+30_*847+37del ENSP00000466309.1:n.*847+30_*847+37del
ENST00000590665.5:c.885+30_885+37del ENSP00000467037.1:n.885+30_885+37del
ENST00000592364.5:c.227-247_227-240del ENSP00000468618.1:n.227-247_227-240del
ENST00000593152.6:c.801+30_801+37del ENSP00000465477.2:n.801+30_801+37del
NM_001001935.2:c.801+30_801+37del NP_001001935.1:n.801+30_801+37del
NM_001001937.1:c.951+30_951+37del NP_001001937.1:n.951+30_951+37del
NM_001257334.1:c.885+30_885+37del NP_001244263.1:n.885+30_885+37del
NM_001257335.1:c.801+30_801+37del NP_001244264.1:n.801+30_801+37del
NM_004046.5:c.951+30_951+37del NP_004037.1:n.951+30_951+37del
XM_011526018.1:c.801+30_801+37del XP_011524320.1:n.801+30_801+37del
XM_017025789.1:c.951+30_951+37del XP_016881278.1:n.951+30_951+37del
NM_004046.6:c.951+30_951+37del MANE Select NP_004037.1:n.951+30_951+37del
NM_001001935.3:c.801+30_801+37del NP_001001935.1:n.801+30_801+37del
NM_001257334.2:c.885+30_885+37del NP_001244263.1:n.885+30_885+37del
NM_001001937.2:c.951+30_951+37del NP_001001937.1:n.951+30_951+37del
NM_001257335.2:c.801+30_801+37del NP_001244264.1:n.801+30_801+37del