Canonical Allele Identifier: CA1430177647

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1717076958
• gnomAD v3: 3-193448340-C-CATATATAG
• gnomAD v4: 3-193448340-C-CATATATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448343_193448350dup , CM000665.2:g.193448343_193448350dup	GRCh38
NC_000003.11:g.193166132_193166139dup , CM000665.1:g.193166132_193166139dup	GRCh37
NC_000003.10:g.194648826_194648833dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-18_2028-11dup MANE Select	ENSP00000339182.4:n.2028-18_2028-11dup
ENST00000342695.8:c.2028-18_2028-11dup	ENSP00000339182.4:n.2028-18_2028-11dup
ENST00000392443.7:c.1971-18_1971-11dup	ENSP00000376238.3:n.1971-18_1971-11dup
ENST00000428352.5:c.947-18_947-11dup
ENST00000450950.6:c.*1471-18_*1471-11dup	ENSP00000402023.2:n.*1471-18_*1471-11dup
ENST00000490925.5:n.2136-18_2136-11dup
NM_032279.3:c.2028-18_2028-11dup	NP_115655.2:n.2028-18_2028-11dup
XM_005247829.2:c.2028-18_2028-11dup	XP_005247886.1:n.2028-18_2028-11dup
XM_011513232.1:c.2028-18_2028-11dup	XP_011511534.1:n.2028-18_2028-11dup
XR_241512.2:n.2329-18_2329-11dup
XR_924191.1:n.2329-18_2329-11dup
XM_011513232.2:c.2028-18_2028-11dup	XP_011511534.1:n.2028-18_2028-11dup
XM_017007318.1:c.1701-18_1701-11dup	XP_016862807.1:n.1701-18_1701-11dup
XM_017007319.1:c.2028-18_2028-11dup	XP_016862808.1:n.2028-18_2028-11dup
XR_001740324.2:n.2098-18_2098-11dup
XR_001740325.1:n.2098-18_2098-11dup
XR_002959602.1:n.2262-18_2262-11dup
XR_924191.3:n.2098-18_2098-11dup
NM_032279.4:c.2028-18_2028-11dup MANE Select	NP_115655.2:n.2028-18_2028-11dup