Canonical Allele Identifier: CA2808659708

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021217_18021225del , CM000679.2:g.18021217_18021225del	GRCh38
NC_000017.10:g.17924531_17924539del , CM000679.1:g.17924531_17924539del	GRCh37
NC_000017.9:g.17865256_17865264del	NCBI36
NG_012824.1:g.22942_22950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.630_638del MANE Select	ENSP00000417190.2:p.Ala211_Gln213del
ENST00000462733.5:c.*47_*55del	ENSP00000463920.1:n.*47_*55del
ENST00000465337.2:n.489_497del
ENST00000467560.5:n.40_48del
ENST00000469327.5:n.540_548del
ENST00000474627.7:c.630_638del	ENSP00000417190.2:p.Ala211_Gln213del
ENST00000488753.1:n.425_433del
ENST00000496852.5:n.1135_1143del
ENST00000581698.1:c.49-2539_49-2531del
ENST00000584205.5:c.*33+3399_*33+3407del	ENSP00000462899.1:n.*33+3399_*33+3407del
ENST00000585101.5:c.*33+3399_*33+3407del	ENSP00000463861.1:n.*33+3399_*33+3407del
NM_145691.3:c.630_638del	NP_663729.1:p.Ala211_Gln213del
XM_005256848.2:c.630_638del	XP_005256905.1:p.Ala211_Gln213del
XM_011524062.1:c.630_638del	XP_011522364.1:p.Ala211_Gln213del
XM_011524063.1:c.630_638del	XP_011522365.1:p.Ala211_Gln213del
XM_011524064.1:c.330_338del	XP_011522366.1:p.Ala111_Gln113del
XM_011524065.1:c.630_638del	XP_011522367.1:p.Ala211_Gln213del
XM_011524066.1:c.93_101del	XP_011522368.1:p.Ala32_Gln34del
XR_934116.1:n.1028_1036del
XM_005256848.4:c.630_638del	XP_005256905.1:p.Ala211_Gln213del
XM_011524065.2:c.630_638del	XP_011522367.1:p.Ala211_Gln213del
XM_017025302.1:c.330_338del	XP_016880791.1:p.Ala111_Gln113del
XM_017025303.1:c.330_338del	XP_016880792.1:p.Ala111_Gln113del
XR_001752677.2:n.1027_1035del
NM_145691.4:c.630_638del MANE Select	NP_663729.1:p.Ala211_Gln213del