Canonical Allele Identifier: CA2669099135

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467416-A-ACTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467417_193467421dup , CM000665.2:g.193467417_193467421dup	GRCh38
NC_000003.11:g.193185206_193185210dup , CM000665.1:g.193185206_193185210dup	GRCh37
NC_000003.10:g.194667900_194667904dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1009_1013dup MANE Select	ENSP00000339182.4:p.Glu339ArgfsTer28
ENST00000295548.3:c.1009_1013dup	ENSP00000295548.3:p.Glu339ArgfsTer28
ENST00000342695.8:c.1009_1013dup	ENSP00000339182.4:p.Glu339ArgfsTer28
ENST00000392443.7:c.1009_1013dup	ENSP00000376238.3:p.Glu339ArgfsTer28
ENST00000450950.6:c.*452_*456dup	ENSP00000402023.2:n.*452_*456dup
ENST00000490925.5:n.1117_1121dup
NM_032279.3:c.1009_1013dup	NP_115655.2:p.Glu339ArgfsTer28
XM_005247829.2:c.1009_1013dup	XP_005247886.1:p.Glu339ArgfsTer28
XM_011513232.1:c.1009_1013dup	XP_011511534.1:p.Glu339ArgfsTer28
XR_241512.2:n.1310_1314dup
XR_924191.1:n.1310_1314dup
XM_011513232.2:c.1009_1013dup	XP_011511534.1:p.Glu339ArgfsTer28
XM_017007318.1:c.682_686dup	XP_016862807.1:p.Glu230ArgfsTer28
XM_017007319.1:c.1009_1013dup	XP_016862808.1:p.Glu339ArgfsTer28
XR_001740324.2:n.1079_1083dup
XR_001740325.1:n.1079_1083dup
XR_002959602.1:n.1243_1247dup
XR_924191.3:n.1079_1083dup
NM_032279.4:c.1009_1013dup MANE Select	NP_115655.2:p.Glu339ArgfsTer28