Canonical Allele Identifier: CA2636413340

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021227-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021229_18021230del , CM000679.2:g.18021229_18021230del	GRCh38
NC_000017.10:g.17924543_17924544del , CM000679.1:g.17924543_17924544del	GRCh37
NC_000017.9:g.17865268_17865269del	NCBI36
NG_012824.1:g.22938_22939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.626_627del MANE Select	ENSP00000417190.2:p.Phe209CysfsTer16
ENST00000462733.5:c.*43_*44del	ENSP00000463920.1:n.*43_*44del
ENST00000465337.2:n.485_486del
ENST00000467560.5:n.36_37del
ENST00000469327.5:n.536_537del
ENST00000474627.7:c.626_627del	ENSP00000417190.2:p.Phe209CysfsTer16
ENST00000488753.1:n.421_422del
ENST00000496852.5:n.1131_1132del
ENST00000581698.1:c.49-2543_49-2542del
ENST00000584205.5:c.*33+3395_*33+3396del	ENSP00000462899.1:n.*33+3395_*33+3396del
ENST00000585101.5:c.*33+3395_*33+3396del	ENSP00000463861.1:n.*33+3395_*33+3396del
NM_145691.3:c.626_627del	NP_663729.1:p.Phe209CysfsTer16
XM_005256848.2:c.626_627del	XP_005256905.1:p.Phe209CysfsTer16
XM_011524062.1:c.626_627del	XP_011522364.1:p.Phe209CysfsTer16
XM_011524063.1:c.626_627del	XP_011522365.1:p.Phe209CysfsTer16
XM_011524064.1:c.326_327del	XP_011522366.1:p.Phe109CysfsTer16
XM_011524065.1:c.626_627del	XP_011522367.1:p.Phe209CysfsTer16
XM_011524066.1:c.89_90del	XP_011522368.1:p.Phe30CysfsTer16
XR_934116.1:n.1024_1025del
XM_005256848.4:c.626_627del	XP_005256905.1:p.Phe209CysfsTer16
XM_011524065.2:c.626_627del	XP_011522367.1:p.Phe209CysfsTer16
XM_017025302.1:c.326_327del	XP_016880791.1:p.Phe109CysfsTer16
XM_017025303.1:c.326_327del	XP_016880792.1:p.Phe109CysfsTer16
XR_001752677.2:n.1023_1024del
NM_145691.4:c.626_627del MANE Select	NP_663729.1:p.Phe209CysfsTer16