Canonical Allele Identifier: CA1430177755

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448406_193448407delinsCT , CM000665.2:g.193448406_193448407delinsCT	GRCh38
NC_000003.11:g.193166195_193166196delinsCT , CM000665.1:g.193166195_193166196delinsCT	GRCh37
NC_000003.10:g.194648889_194648890delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-77_2028-76delinsAG MANE Select	ENSP00000339182.4:n.2028-77_2028-76delinsAG
ENST00000342695.8:c.2028-77_2028-76delinsAG	ENSP00000339182.4:n.2028-77_2028-76delinsAG
ENST00000392443.7:c.1971-77_1971-76delinsAG	ENSP00000376238.3:n.1971-77_1971-76delinsAG
ENST00000428352.5:c.947-77_947-76delinsAG
ENST00000450950.6:c.*1471-77_*1471-76delinsAG	ENSP00000402023.2:n.*1471-77_*1471-76delinsAG
ENST00000490925.5:n.2136-77_2136-76delinsAG
NM_032279.3:c.2028-77_2028-76delinsAG	NP_115655.2:n.2028-77_2028-76delinsAG
XM_005247829.2:c.2028-77_2028-76delinsAG	XP_005247886.1:n.2028-77_2028-76delinsAG
XM_011513232.1:c.2028-77_2028-76delinsAG	XP_011511534.1:n.2028-77_2028-76delinsAG
XR_241512.2:n.2329-77_2329-76delinsAG
XR_924191.1:n.2329-77_2329-76delinsAG
XM_011513232.2:c.2028-77_2028-76delinsAG	XP_011511534.1:n.2028-77_2028-76delinsAG
XM_017007318.1:c.1701-77_1701-76delinsAG	XP_016862807.1:n.1701-77_1701-76delinsAG
XM_017007319.1:c.2028-77_2028-76delinsAG	XP_016862808.1:n.2028-77_2028-76delinsAG
XR_001740324.2:n.2098-77_2098-76delinsAG
XR_001740325.1:n.2098-77_2098-76delinsAG
XR_002959602.1:n.2262-77_2262-76delinsAG
XR_924191.3:n.2098-77_2098-76delinsAG
NM_032279.4:c.2028-77_2028-76delinsAG MANE Select	NP_115655.2:n.2028-77_2028-76delinsAG