Canonical Allele Identifier: CA2250816731

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018068_18018080delinsCAGGCTGAGGCTG , CM000679.2:g.18018068_18018080delinsCAGGCTGAGGCTG	GRCh38
NC_000017.10:g.17921382_17921394delinsCAGGCTGAGGCTG , CM000679.1:g.17921382_17921394delinsCAGGCTGAGGCTG	GRCh37
NC_000017.9:g.17862107_17862119delinsCAGGCTGAGGCTG	NCBI36
NG_012824.1:g.26087_26099delinsCAGCCTCAGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*469_*481delinsCAGCCTCAGCCTG MANE Select	ENSP00000417190.2:n.*469_*481delinsCAGCCTCAGCCTG
ENST00000462733.5:c.*150-1820_*150-1808delinsCAGCCTCAGCCTG	ENSP00000463920.1:n.*150-1820_*150-1808delinsCAGCCTCAGCCTG
ENST00000474627.7:c.*469_*481delinsCAGCCTCAGCCTG	ENSP00000417190.2:n.*469_*481delinsCAGCCTCAGCCTG
ENST00000584205.5:c.*33+6544_*33+6556delinsCAGCCTCAGCCTG	ENSP00000462899.1:n.*33+6544_*33+6556delinsCAGCCTCAGCCTG
ENST00000585101.5:c.*34-1820_*34-1808delinsCAGCCTCAGCCTG	ENSP00000463861.1:n.*34-1820_*34-1808delinsCAGCCTCAGCCTG
NM_145691.3:c.*469_*481delinsCAGCCTCAGCCTG	NP_663729.1:n.*469_*481delinsCAGCCTCAGCCTG
XM_011524062.1:c.732+3043_732+3055delinsCAGCCTCAGCCTG	XP_011522364.1:n.732+3043_732+3055delinsCAGCCTCAGCCTG
XM_011524063.1:c.732+3043_732+3055delinsCAGCCTCAGCCTG	XP_011522365.1:n.732+3043_732+3055delinsCAGCCTCAGCCTG
XM_011524064.1:c.432+3043_432+3055delinsCAGCCTCAGCCTG	XP_011522366.1:n.432+3043_432+3055delinsCAGCCTCAGCCTG
XM_011524065.1:c.733-1820_733-1808delinsCAGCCTCAGCCTG	XP_011522367.1:n.733-1820_733-1808delinsCAGCCTCAGCCTG
XM_011524066.1:c.195+3043_195+3055delinsCAGCCTCAGCCTG	XP_011522368.1:n.195+3043_195+3055delinsCAGCCTCAGCCTG
XM_011524065.2:c.733-1820_733-1808delinsCAGCCTCAGCCTG	XP_011522367.1:n.733-1820_733-1808delinsCAGCCTCAGCCTG
XM_017025303.1:c.433-1820_433-1808delinsCAGCCTCAGCCTG	XP_016880792.1:n.433-1820_433-1808delinsCAGCCTCAGCCTG
XR_001752677.2:n.1736_1748delinsCAGCCTCAGCCTG
NM_145691.4:c.*469_*481delinsCAGCCTCAGCCTG MANE Select	NP_663729.1:n.*469_*481delinsCAGCCTCAGCCTG