Canonical Allele Identifier: CA2577994450

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467479dup , CM000665.2:g.193467479dup	GRCh38
NC_000003.11:g.193185268dup , CM000665.1:g.193185268dup	GRCh37
NC_000003.10:g.194667962dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.951dup MANE Select	ENSP00000339182.4:p.Ile318TyrfsTer13
ENST00000295548.3:c.951dup	ENSP00000295548.3:p.Ile318TyrfsTer13
ENST00000342695.8:c.951dup	ENSP00000339182.4:p.Ile318TyrfsTer13
ENST00000392443.7:c.951dup	ENSP00000376238.3:p.Ile318TyrfsTer13
ENST00000450950.6:c.*394dup	ENSP00000402023.2:n.*394dup
ENST00000490925.5:n.1059dup
NM_032279.3:c.951dup	NP_115655.2:p.Ile318TyrfsTer13
XM_005247829.2:c.951dup	XP_005247886.1:p.Ile318TyrfsTer13
XM_011513232.1:c.951dup	XP_011511534.1:p.Ile318TyrfsTer13
XR_241512.2:n.1252dup
XR_924191.1:n.1252dup
XM_011513232.2:c.951dup	XP_011511534.1:p.Ile318TyrfsTer13
XM_017007318.1:c.624dup	XP_016862807.1:p.Ile209TyrfsTer13
XM_017007319.1:c.951dup	XP_016862808.1:p.Ile318TyrfsTer13
XR_001740324.2:n.1021dup
XR_001740325.1:n.1021dup
XR_002959602.1:n.1185dup
XR_924191.3:n.1021dup
NM_032279.4:c.951dup MANE Select	NP_115655.2:p.Ile318TyrfsTer13