Canonical Allele Identifier: CA2300669222

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087391_46087394delinsTAAA , CM000680.2:g.46087391_46087394delinsTAAA	GRCh38
NC_000018.9:g.43667357_43667360delinsTAAA , CM000680.1:g.43667357_43667360delinsTAAA	GRCh37
NC_000018.8:g.41921355_41921358delinsTAAA	NCBI36
NG_041769.1:g.21840_21843delinsTTTA
NG_041769.2:g.26840_26843delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.898_901delinsTTTA MANE Select	ENSP00000381736.5:p.Phe300=
ENST00000282050.6:c.898_901delinsTTTA	ENSP00000282050.2:p.Phe300=
ENST00000398752.10:c.898_901delinsTTTA	ENSP00000381736.5:p.Phe300=
ENST00000586523.1:n.1303_1306delinsTTTA
ENST00000586592.5:c.*961_*964delinsTTTA	ENSP00000466275.3:n.*961_*964delinsTTTA
ENST00000590156.5:c.*794_*797delinsTTTA	ENSP00000466309.1:n.*794_*797delinsTTTA
ENST00000590665.5:c.832_835delinsTTTA	ENSP00000467037.1:p.Phe278=
ENST00000592364.5:c.227-330_227-327delinsTTTA	ENSP00000468618.1:n.227-330_227-327delinsTTTA
ENST00000593152.6:c.748_751delinsTTTA	ENSP00000465477.2:p.Phe250=
NM_001001935.2:c.748_751delinsTTTA	NP_001001935.1:p.Phe250=
NM_001001937.1:c.898_901delinsTTTA	NP_001001937.1:p.Phe300=
NM_001257334.1:c.832_835delinsTTTA	NP_001244263.1:p.Phe278=
NM_001257335.1:c.748_751delinsTTTA	NP_001244264.1:p.Phe250=
NM_004046.5:c.898_901delinsTTTA	NP_004037.1:p.Phe300=
XM_011526018.1:c.748_751delinsTTTA	XP_011524320.1:p.Phe250=
XM_017025789.1:c.898_901delinsTTTA	XP_016881278.1:p.Phe300=
NM_004046.6:c.898_901delinsTTTA MANE Select	NP_004037.1:p.Phe300=
NM_001001935.3:c.748_751delinsTTTA	NP_001001935.1:p.Phe250=
NM_001257334.2:c.832_835delinsTTTA	NP_001244263.1:p.Phe278=
NM_001001937.2:c.898_901delinsTTTA	NP_001001937.1:p.Phe300=
NM_001257335.2:c.748_751delinsTTTA	NP_001244264.1:p.Phe250=