Canonical Allele Identifier: CA982008260

Gene: ATPAF2

Linked Data

• gnomAD v3: 17-18018054-C-CAAAAAAA
• gnomAD v4: 17-18018054-C-CAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018056_18018062dup , CM000679.2:g.18018056_18018062dup	GRCh38
NC_000017.10:g.17921370_17921376dup , CM000679.1:g.17921370_17921376dup	GRCh37
NC_000017.9:g.17862095_17862101dup	NCBI36
NG_012824.1:g.26106_26112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*488_*494dup MANE Select	ENSP00000417190.2:n.*488_*494dup
ENST00000462733.5:c.*150-1801_*150-1795dup	ENSP00000463920.1:n.*150-1801_*150-1795dup
ENST00000474627.7:c.*488_*494dup	ENSP00000417190.2:n.*488_*494dup
ENST00000584205.5:c.*33+6563_*33+6569dup	ENSP00000462899.1:n.*33+6563_*33+6569dup
ENST00000585101.5:c.*34-1801_*34-1795dup	ENSP00000463861.1:n.*34-1801_*34-1795dup
NM_145691.3:c.*488_*494dup	NP_663729.1:n.*488_*494dup
XM_011524062.1:c.732+3062_732+3068dup	XP_011522364.1:n.732+3062_732+3068dup
XM_011524063.1:c.732+3062_732+3068dup	XP_011522365.1:n.732+3062_732+3068dup
XM_011524064.1:c.432+3062_432+3068dup	XP_011522366.1:n.432+3062_432+3068dup
XM_011524065.1:c.733-1801_733-1795dup	XP_011522367.1:n.733-1801_733-1795dup
XM_011524066.1:c.195+3062_195+3068dup	XP_011522368.1:n.195+3062_195+3068dup
XM_011524065.2:c.733-1801_733-1795dup	XP_011522367.1:n.733-1801_733-1795dup
XM_017025303.1:c.433-1801_433-1795dup	XP_016880792.1:n.433-1801_433-1795dup
XR_001752677.2:n.1755_1761dup
NM_145691.4:c.*488_*494dup MANE Select	NP_663729.1:n.*488_*494dup