Canonical Allele Identifier: CA1430177668

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448354_193448356delinsTTG , CM000665.2:g.193448354_193448356delinsTTG	GRCh38
NC_000003.11:g.193166143_193166145delinsTTG , CM000665.1:g.193166143_193166145delinsTTG	GRCh37
NC_000003.10:g.194648837_194648839delinsTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-26_2028-24delinsCAA MANE Select	ENSP00000339182.4:n.2028-26_2028-24delinsCAA
ENST00000342695.8:c.2028-26_2028-24delinsCAA	ENSP00000339182.4:n.2028-26_2028-24delinsCAA
ENST00000392443.7:c.1971-26_1971-24delinsCAA	ENSP00000376238.3:n.1971-26_1971-24delinsCAA
ENST00000428352.5:c.947-26_947-24delinsCAA
ENST00000450950.6:c.*1471-26_*1471-24delinsCAA	ENSP00000402023.2:n.*1471-26_*1471-24delinsCAA
ENST00000490925.5:n.2136-26_2136-24delinsCAA
NM_032279.3:c.2028-26_2028-24delinsCAA	NP_115655.2:n.2028-26_2028-24delinsCAA
XM_005247829.2:c.2028-26_2028-24delinsCAA	XP_005247886.1:n.2028-26_2028-24delinsCAA
XM_011513232.1:c.2028-26_2028-24delinsCAA	XP_011511534.1:n.2028-26_2028-24delinsCAA
XR_241512.2:n.2329-26_2329-24delinsCAA
XR_924191.1:n.2329-26_2329-24delinsCAA
XM_011513232.2:c.2028-26_2028-24delinsCAA	XP_011511534.1:n.2028-26_2028-24delinsCAA
XM_017007318.1:c.1701-26_1701-24delinsCAA	XP_016862807.1:n.1701-26_1701-24delinsCAA
XM_017007319.1:c.2028-26_2028-24delinsCAA	XP_016862808.1:n.2028-26_2028-24delinsCAA
XR_001740324.2:n.2098-26_2098-24delinsCAA
XR_001740325.1:n.2098-26_2098-24delinsCAA
XR_002959602.1:n.2262-26_2262-24delinsCAA
XR_924191.3:n.2098-26_2098-24delinsCAA
NM_032279.4:c.2028-26_2028-24delinsCAA MANE Select	NP_115655.2:n.2028-26_2028-24delinsCAA