Canonical Allele Identifier: CA2501455703

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021223del , CM000679.2:g.18021223del	GRCh38
NC_000017.10:g.17924537del , CM000679.1:g.17924537del	GRCh37
NC_000017.9:g.17865262del	NCBI36
NG_012824.1:g.22944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.632del MANE Select	ENSP00000417190.2:p.Ala211ValfsTer9
ENST00000462733.5:c.*49del	ENSP00000463920.1:n.*49del
ENST00000465337.2:n.491del
ENST00000467560.5:n.42del
ENST00000469327.5:n.542del
ENST00000474627.7:c.632del	ENSP00000417190.2:p.Ala211ValfsTer9
ENST00000488753.1:n.427del
ENST00000496852.5:n.1137del
ENST00000581698.1:c.49-2537del
ENST00000584205.5:c.*33+3401del	ENSP00000462899.1:n.*33+3401del
ENST00000585101.5:c.*33+3401del	ENSP00000463861.1:n.*33+3401del
NM_145691.3:c.632del	NP_663729.1:p.Ala211ValfsTer9
XM_005256848.2:c.632del	XP_005256905.1:p.Ala211ValfsTer9
XM_011524062.1:c.632del	XP_011522364.1:p.Ala211ValfsTer9
XM_011524063.1:c.632del	XP_011522365.1:p.Ala211ValfsTer9
XM_011524064.1:c.332del	XP_011522366.1:p.Ala111ValfsTer9
XM_011524065.1:c.632del	XP_011522367.1:p.Ala211ValfsTer9
XM_011524066.1:c.95del	XP_011522368.1:p.Ala32ValfsTer9
XR_934116.1:n.1030del
XM_005256848.4:c.632del	XP_005256905.1:p.Ala211ValfsTer9
XM_011524065.2:c.632del	XP_011522367.1:p.Ala211ValfsTer9
XM_017025302.1:c.332del	XP_016880791.1:p.Ala111ValfsTer9
XM_017025303.1:c.332del	XP_016880792.1:p.Ala111ValfsTer9
XR_001752677.2:n.1029del
NM_145691.4:c.632del MANE Select	NP_663729.1:p.Ala211ValfsTer9