Canonical Allele Identifier: CA2300668991

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086832_46086850delinsGACAGATACATGGGGTTTC , CM000680.2:g.46086832_46086850delinsGACAGATACATGGGGTTTC	GRCh38
NC_000018.9:g.43666798_43666816delinsGACAGATACATGGGGTTTC , CM000680.1:g.43666798_43666816delinsGACAGATACATGGGGTTTC	GRCh37
NC_000018.8:g.41920796_41920814delinsGACAGATACATGGGGTTTC	NCBI36
NG_041769.1:g.22384_22402delinsGAAACCCCATGTATCTGTC
NG_041769.2:g.27384_27402delinsGAAACCCCATGTATCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC MANE Select	ENSP00000381736.5:n.1176+158_1176+176delinsGAAACCCCATGTATCTGT...
ENST00000282050.6:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	ENSP00000282050.2:n.1176+158_1176+176delinsGAAACCCCATGTATCTGT...
ENST00000398752.10:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	ENSP00000381736.5:n.1176+158_1176+176delinsGAAACCCCATGTATCTGT...
ENST00000586523.1:n.1847_1865delinsGAAACCCCATGTATCTGTC
ENST00000586592.5:c.*1239+158_*1239+176delinsGAAACCCCATGTATCTGTC	ENSP00000466275.3:n.*1239+158_*1239+176delinsGAAACCCCATGTATCT...
ENST00000590156.5:c.*1072+158_*1072+176delinsGAAACCCCATGTATCTGTC	ENSP00000466309.1:n.*1072+158_*1072+176delinsGAAACCCCATGTATCT...
ENST00000590665.5:c.1110+158_1110+176delinsGAAACCCCATGTATCTGTC	ENSP00000467037.1:n.1110+158_1110+176delinsGAAACCCCATGTATCTGT...
ENST00000592364.5:c.*49+158_*49+176delinsGAAACCCCATGTATCTGTC	ENSP00000468618.1:n.*49+158_*49+176delinsGAAACCCCATGTATCTGTC
ENST00000593152.6:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	ENSP00000465477.2:n.1026+158_1026+176delinsGAAACCCCATGTATCTGT...
NM_001001935.2:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	NP_001001935.1:n.1026+158_1026+176delinsGAAACCCCATGTATCTGTC
NM_001001937.1:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	NP_001001937.1:n.1176+158_1176+176delinsGAAACCCCATGTATCTGTC
NM_001257334.1:c.1110+158_1110+176delinsGAAACCCCATGTATCTGTC	NP_001244263.1:n.1110+158_1110+176delinsGAAACCCCATGTATCTGTC
NM_001257335.1:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	NP_001244264.1:n.1026+158_1026+176delinsGAAACCCCATGTATCTGTC
NM_004046.5:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	NP_004037.1:n.1176+158_1176+176delinsGAAACCCCATGTATCTGTC
XM_011526018.1:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	XP_011524320.1:n.1026+158_1026+176delinsGAAACCCCATGTATCTGTC
XM_017025789.1:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	XP_016881278.1:n.1176+158_1176+176delinsGAAACCCCATGTATCTGTC
NM_004046.6:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC MANE Select	NP_004037.1:n.1176+158_1176+176delinsGAAACCCCATGTATCTGTC
NM_001001935.3:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	NP_001001935.1:n.1026+158_1026+176delinsGAAACCCCATGTATCTGTC
NM_001257334.2:c.1110+158_1110+176delinsGAAACCCCATGTATCTGTC	NP_001244263.1:n.1110+158_1110+176delinsGAAACCCCATGTATCTGTC
NM_001001937.2:c.1176+158_1176+176delinsGAAACCCCATGTATCTGTC	NP_001001937.1:n.1176+158_1176+176delinsGAAACCCCATGTATCTGTC
NM_001257335.2:c.1026+158_1026+176delinsGAAACCCCATGTATCTGTC	NP_001244264.1:n.1026+158_1026+176delinsGAAACCCCATGTATCTGTC