Canonical Allele Identifier: CA1430177707

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448380_193448381delinsCT , CM000665.2:g.193448380_193448381delinsCT	GRCh38
NC_000003.11:g.193166169_193166170delinsCT , CM000665.1:g.193166169_193166170delinsCT	GRCh37
NC_000003.10:g.194648863_194648864delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-51_2028-50delinsAG MANE Select	ENSP00000339182.4:n.2028-51_2028-50delinsAG
ENST00000342695.8:c.2028-51_2028-50delinsAG	ENSP00000339182.4:n.2028-51_2028-50delinsAG
ENST00000392443.7:c.1971-51_1971-50delinsAG	ENSP00000376238.3:n.1971-51_1971-50delinsAG
ENST00000428352.5:c.947-51_947-50delinsAG
ENST00000450950.6:c.*1471-51_*1471-50delinsAG	ENSP00000402023.2:n.*1471-51_*1471-50delinsAG
ENST00000490925.5:n.2136-51_2136-50delinsAG
NM_032279.3:c.2028-51_2028-50delinsAG	NP_115655.2:n.2028-51_2028-50delinsAG
XM_005247829.2:c.2028-51_2028-50delinsAG	XP_005247886.1:n.2028-51_2028-50delinsAG
XM_011513232.1:c.2028-51_2028-50delinsAG	XP_011511534.1:n.2028-51_2028-50delinsAG
XR_241512.2:n.2329-51_2329-50delinsAG
XR_924191.1:n.2329-51_2329-50delinsAG
XM_011513232.2:c.2028-51_2028-50delinsAG	XP_011511534.1:n.2028-51_2028-50delinsAG
XM_017007318.1:c.1701-51_1701-50delinsAG	XP_016862807.1:n.1701-51_1701-50delinsAG
XM_017007319.1:c.2028-51_2028-50delinsAG	XP_016862808.1:n.2028-51_2028-50delinsAG
XR_001740324.2:n.2098-51_2098-50delinsAG
XR_001740325.1:n.2098-51_2098-50delinsAG
XR_002959602.1:n.2262-51_2262-50delinsAG
XR_924191.3:n.2098-51_2098-50delinsAG
NM_032279.4:c.2028-51_2028-50delinsAG MANE Select	NP_115655.2:n.2028-51_2028-50delinsAG