Canonical Allele Identifier: CA2636423910

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18018149-CAGCAGATATCCAAACACGCCATGGGAGATAAGCTGTTTAACCCTCTGGAACCTAGACAAAACAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018152_18018217del , CM000679.2:g.18018152_18018217del	GRCh38
NC_000017.10:g.17921466_17921531del , CM000679.1:g.17921466_17921531del	GRCh37
NC_000017.9:g.17862191_17862256del	NCBI36
NG_012824.1:g.25952_26017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*334_*399del MANE Select	ENSP00000417190.2:n.*334_*399del
ENST00000462733.5:c.*150-1955_*150-1890del	ENSP00000463920.1:n.*150-1955_*150-1890del
ENST00000474627.7:c.*334_*399del	ENSP00000417190.2:n.*334_*399del
ENST00000584205.5:c.*33+6409_*33+6474del	ENSP00000462899.1:n.*33+6409_*33+6474del
ENST00000585101.5:c.*34-1955_*34-1890del	ENSP00000463861.1:n.*34-1955_*34-1890del
NM_145691.3:c.*334_*399del	NP_663729.1:n.*334_*399del
XM_011524062.1:c.732+2908_732+2973del	XP_011522364.1:n.732+2908_732+2973del
XM_011524063.1:c.732+2908_732+2973del	XP_011522365.1:n.732+2908_732+2973del
XM_011524064.1:c.432+2908_432+2973del	XP_011522366.1:n.432+2908_432+2973del
XM_011524065.1:c.733-1955_733-1890del	XP_011522367.1:n.733-1955_733-1890del
XM_011524066.1:c.195+2908_195+2973del	XP_011522368.1:n.195+2908_195+2973del
XM_011524065.2:c.733-1955_733-1890del	XP_011522367.1:n.733-1955_733-1890del
XM_017025303.1:c.433-1955_433-1890del	XP_016880792.1:n.433-1955_433-1890del
XR_001752677.2:n.1601_1666del
NM_145691.4:c.*334_*399del MANE Select	NP_663729.1:n.*334_*399del