Canonical Allele Identifier: CA2830536194

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448430_193448431insC , CM000665.2:g.193448430_193448431insC	GRCh38
NC_000003.11:g.193166219_193166220insC , CM000665.1:g.193166219_193166220insC	GRCh37
NC_000003.10:g.194648913_194648914insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-101_2028-100insG MANE Select	ENSP00000339182.4:n.2028-101_2028-100insG
ENST00000342695.8:c.2028-101_2028-100insG	ENSP00000339182.4:n.2028-101_2028-100insG
ENST00000392443.7:c.1971-101_1971-100insG	ENSP00000376238.3:n.1971-101_1971-100insG
ENST00000428352.5:c.947-101_947-100insG
ENST00000450950.6:c.*1471-101_*1471-100insG	ENSP00000402023.2:n.*1471-101_*1471-100insG
ENST00000490925.5:n.2136-101_2136-100insG
NM_032279.3:c.2028-101_2028-100insG	NP_115655.2:n.2028-101_2028-100insG
XM_005247829.2:c.2028-101_2028-100insG	XP_005247886.1:n.2028-101_2028-100insG
XM_011513232.1:c.2028-101_2028-100insG	XP_011511534.1:n.2028-101_2028-100insG
XR_241512.2:n.2329-101_2329-100insG
XR_924191.1:n.2329-101_2329-100insG
XM_011513232.2:c.2028-101_2028-100insG	XP_011511534.1:n.2028-101_2028-100insG
XM_017007318.1:c.1701-101_1701-100insG	XP_016862807.1:n.1701-101_1701-100insG
XM_017007319.1:c.2028-101_2028-100insG	XP_016862808.1:n.2028-101_2028-100insG
XR_001740324.2:n.2098-101_2098-100insG
XR_001740325.1:n.2098-101_2098-100insG
XR_002959602.1:n.2262-101_2262-100insG
XR_924191.3:n.2098-101_2098-100insG
NM_032279.4:c.2028-101_2028-100insG MANE Select	NP_115655.2:n.2028-101_2028-100insG