Canonical Allele Identifier: CA8950682

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs751834069
• ExAC: 18:43667290 AATTT / A
• gnomAD v2: 18-43667290-AATTT-A
• gnomAD v4: 18-46087324-AATTT-A
• MyVariant Identifiers: chr18:g.43667291_43667294del (hg19) ; chr18:g.46087325_46087328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087329_46087332del , CM000680.2:g.46087329_46087332del	GRCh38
NC_000018.9:g.43667295_43667298del , CM000680.1:g.43667295_43667298del	GRCh37
NC_000018.8:g.41921293_41921296del	NCBI36
NG_041769.1:g.21906_21909del
NG_041769.2:g.26906_26909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.951+13_951+16del MANE Select	ENSP00000381736.5:n.951+13_951+16del
ENST00000282050.6:c.951+13_951+16del	ENSP00000282050.2:n.951+13_951+16del
ENST00000398752.10:c.951+13_951+16del	ENSP00000381736.5:n.951+13_951+16del
ENST00000586523.1:n.1369_1372del
ENST00000586592.5:c.*1014+13_*1014+16del	ENSP00000466275.3:n.*1014+13_*1014+16del
ENST00000590156.5:c.*847+13_*847+16del	ENSP00000466309.1:n.*847+13_*847+16del
ENST00000590665.5:c.885+13_885+16del	ENSP00000467037.1:n.885+13_885+16del
ENST00000592364.5:c.227-264_227-261del	ENSP00000468618.1:n.227-264_227-261del
ENST00000593152.6:c.801+13_801+16del	ENSP00000465477.2:n.801+13_801+16del
NM_001001935.2:c.801+13_801+16del	NP_001001935.1:n.801+13_801+16del
NM_001001937.1:c.951+13_951+16del	NP_001001937.1:n.951+13_951+16del
NM_001257334.1:c.885+13_885+16del	NP_001244263.1:n.885+13_885+16del
NM_001257335.1:c.801+13_801+16del	NP_001244264.1:n.801+13_801+16del
NM_004046.5:c.951+13_951+16del	NP_004037.1:n.951+13_951+16del
XM_011526018.1:c.801+13_801+16del	XP_011524320.1:n.801+13_801+16del
XM_017025789.1:c.951+13_951+16del	XP_016881278.1:n.951+13_951+16del
NM_004046.6:c.951+13_951+16del MANE Select	NP_004037.1:n.951+13_951+16del
NM_001001935.3:c.801+13_801+16del	NP_001001935.1:n.801+13_801+16del
NM_001257334.2:c.885+13_885+16del	NP_001244263.1:n.885+13_885+16del
NM_001001937.2:c.951+13_951+16del	NP_001001937.1:n.951+13_951+16del
NM_001257335.2:c.801+13_801+16del	NP_001244264.1:n.801+13_801+16del