Canonical Allele Identifier: CA2300668979

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086815_46086817delinsCTA , CM000680.2:g.46086815_46086817delinsCTA	GRCh38
NC_000018.9:g.43666781_43666783delinsCTA , CM000680.1:g.43666781_43666783delinsCTA	GRCh37
NC_000018.8:g.41920779_41920781delinsCTA	NCBI36
NG_041769.1:g.22417_22419delinsTAG
NG_041769.2:g.27417_27419delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+191_1176+193delinsTAG MANE Select	ENSP00000381736.5:n.1176+191_1176+193delinsTAG
ENST00000282050.6:c.1176+191_1176+193delinsTAG	ENSP00000282050.2:n.1176+191_1176+193delinsTAG
ENST00000398752.10:c.1176+191_1176+193delinsTAG	ENSP00000381736.5:n.1176+191_1176+193delinsTAG
ENST00000586523.1:n.1880_1882delinsTAG
ENST00000586592.5:c.*1239+191_*1239+193delinsTAG	ENSP00000466275.3:n.*1239+191_*1239+193delinsTAG
ENST00000590156.5:c.*1072+191_*1072+193delinsTAG	ENSP00000466309.1:n.*1072+191_*1072+193delinsTAG
ENST00000590665.5:c.1110+191_1110+193delinsTAG	ENSP00000467037.1:n.1110+191_1110+193delinsTAG
ENST00000592364.5:c.*49+191_*49+193delinsTAG	ENSP00000468618.1:n.*49+191_*49+193delinsTAG
ENST00000593152.6:c.1026+191_1026+193delinsTAG	ENSP00000465477.2:n.1026+191_1026+193delinsTAG
NM_001001935.2:c.1026+191_1026+193delinsTAG	NP_001001935.1:n.1026+191_1026+193delinsTAG
NM_001001937.1:c.1176+191_1176+193delinsTAG	NP_001001937.1:n.1176+191_1176+193delinsTAG
NM_001257334.1:c.1110+191_1110+193delinsTAG	NP_001244263.1:n.1110+191_1110+193delinsTAG
NM_001257335.1:c.1026+191_1026+193delinsTAG	NP_001244264.1:n.1026+191_1026+193delinsTAG
NM_004046.5:c.1176+191_1176+193delinsTAG	NP_004037.1:n.1176+191_1176+193delinsTAG
XM_011526018.1:c.1026+191_1026+193delinsTAG	XP_011524320.1:n.1026+191_1026+193delinsTAG
XM_017025789.1:c.1176+191_1176+193delinsTAG	XP_016881278.1:n.1176+191_1176+193delinsTAG
NM_004046.6:c.1176+191_1176+193delinsTAG MANE Select	NP_004037.1:n.1176+191_1176+193delinsTAG
NM_001001935.3:c.1026+191_1026+193delinsTAG	NP_001001935.1:n.1026+191_1026+193delinsTAG
NM_001257334.2:c.1110+191_1110+193delinsTAG	NP_001244263.1:n.1110+191_1110+193delinsTAG
NM_001001937.2:c.1176+191_1176+193delinsTAG	NP_001001937.1:n.1176+191_1176+193delinsTAG
NM_001257335.2:c.1026+191_1026+193delinsTAG	NP_001244264.1:n.1026+191_1026+193delinsTAG