Canonical Allele Identifier: CA548814211

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1560194048
• gnomAD v2: 3-193166143-TTG-T
• gnomAD v4: 3-193448354-TTG-T
• MyVariant Identifiers: chr3:g.193166144_193166145del (hg19) ; chr3:g.193448355_193448356del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448355_193448356del , CM000665.2:g.193448355_193448356del	GRCh38
NC_000003.11:g.193166144_193166145del , CM000665.1:g.193166144_193166145del	GRCh37
NC_000003.10:g.194648838_194648839del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-26_2028-25del MANE Select	ENSP00000339182.4:n.2028-26_2028-25del
ENST00000342695.8:c.2028-26_2028-25del	ENSP00000339182.4:n.2028-26_2028-25del
ENST00000392443.7:c.1971-26_1971-25del	ENSP00000376238.3:n.1971-26_1971-25del
ENST00000428352.5:c.947-26_947-25del
ENST00000450950.6:c.*1471-26_*1471-25del	ENSP00000402023.2:n.*1471-26_*1471-25del
ENST00000490925.5:n.2136-26_2136-25del
NM_032279.3:c.2028-26_2028-25del	NP_115655.2:n.2028-26_2028-25del
XM_005247829.2:c.2028-26_2028-25del	XP_005247886.1:n.2028-26_2028-25del
XM_011513232.1:c.2028-26_2028-25del	XP_011511534.1:n.2028-26_2028-25del
XR_241512.2:n.2329-26_2329-25del
XR_924191.1:n.2329-26_2329-25del
XM_011513232.2:c.2028-26_2028-25del	XP_011511534.1:n.2028-26_2028-25del
XM_017007318.1:c.1701-26_1701-25del	XP_016862807.1:n.1701-26_1701-25del
XM_017007319.1:c.2028-26_2028-25del	XP_016862808.1:n.2028-26_2028-25del
XR_001740324.2:n.2098-26_2098-25del
XR_001740325.1:n.2098-26_2098-25del
XR_002959602.1:n.2262-26_2262-25del
XR_924191.3:n.2098-26_2098-25del
NM_032279.4:c.2028-26_2028-25del MANE Select	NP_115655.2:n.2028-26_2028-25del