Canonical Allele Identifier: CA2641640846

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46086832-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086834_46086835del , CM000680.2:g.46086834_46086835del	GRCh38
NC_000018.9:g.43666800_43666801del , CM000680.1:g.43666800_43666801del	GRCh37
NC_000018.8:g.41920798_41920799del	NCBI36
NG_041769.1:g.22400_22401del
NG_041769.2:g.27400_27401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+174_1176+175del MANE Select	ENSP00000381736.5:n.1176+174_1176+175del
ENST00000282050.6:c.1176+174_1176+175del	ENSP00000282050.2:n.1176+174_1176+175del
ENST00000398752.10:c.1176+174_1176+175del	ENSP00000381736.5:n.1176+174_1176+175del
ENST00000586523.1:n.1863_1864del
ENST00000586592.5:c.*1239+174_*1239+175del	ENSP00000466275.3:n.*1239+174_*1239+175del
ENST00000590156.5:c.*1072+174_*1072+175del	ENSP00000466309.1:n.*1072+174_*1072+175del
ENST00000590665.5:c.1110+174_1110+175del	ENSP00000467037.1:n.1110+174_1110+175del
ENST00000592364.5:c.*49+174_*49+175del	ENSP00000468618.1:n.*49+174_*49+175del
ENST00000593152.6:c.1026+174_1026+175del	ENSP00000465477.2:n.1026+174_1026+175del
NM_001001935.2:c.1026+174_1026+175del	NP_001001935.1:n.1026+174_1026+175del
NM_001001937.1:c.1176+174_1176+175del	NP_001001937.1:n.1176+174_1176+175del
NM_001257334.1:c.1110+174_1110+175del	NP_001244263.1:n.1110+174_1110+175del
NM_001257335.1:c.1026+174_1026+175del	NP_001244264.1:n.1026+174_1026+175del
NM_004046.5:c.1176+174_1176+175del	NP_004037.1:n.1176+174_1176+175del
XM_011526018.1:c.1026+174_1026+175del	XP_011524320.1:n.1026+174_1026+175del
XM_017025789.1:c.1176+174_1176+175del	XP_016881278.1:n.1176+174_1176+175del
NM_004046.6:c.1176+174_1176+175del MANE Select	NP_004037.1:n.1176+174_1176+175del
NM_001001935.3:c.1026+174_1026+175del	NP_001001935.1:n.1026+174_1026+175del
NM_001257334.2:c.1110+174_1110+175del	NP_001244263.1:n.1110+174_1110+175del
NM_001001937.2:c.1176+174_1176+175del	NP_001001937.1:n.1176+174_1176+175del
NM_001257335.2:c.1026+174_1026+175del	NP_001244264.1:n.1026+174_1026+175del