Canonical Allele Identifier: CA548814219

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1163725623
• gnomAD v2: 3-193166172-T-TG
• gnomAD v3: 3-193448383-T-TG
• gnomAD v4: 3-193448383-T-TG
• MyVariant Identifiers: chr3:g.193166172_193166173insG (hg19) ; chr3:g.193448383_193448384insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448383_193448384insG , CM000665.2:g.193448383_193448384insG	GRCh38
NC_000003.11:g.193166172_193166173insG , CM000665.1:g.193166172_193166173insG	GRCh37
NC_000003.10:g.194648866_194648867insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-54_2028-53insC MANE Select	ENSP00000339182.4:n.2028-54_2028-53insC
ENST00000342695.8:c.2028-54_2028-53insC	ENSP00000339182.4:n.2028-54_2028-53insC
ENST00000392443.7:c.1971-54_1971-53insC	ENSP00000376238.3:n.1971-54_1971-53insC
ENST00000428352.5:c.947-54_947-53insC
ENST00000450950.6:c.*1471-54_*1471-53insC	ENSP00000402023.2:n.*1471-54_*1471-53insC
ENST00000490925.5:n.2136-54_2136-53insC
NM_032279.3:c.2028-54_2028-53insC	NP_115655.2:n.2028-54_2028-53insC
XM_005247829.2:c.2028-54_2028-53insC	XP_005247886.1:n.2028-54_2028-53insC
XM_011513232.1:c.2028-54_2028-53insC	XP_011511534.1:n.2028-54_2028-53insC
XR_241512.2:n.2329-54_2329-53insC
XR_924191.1:n.2329-54_2329-53insC
XM_011513232.2:c.2028-54_2028-53insC	XP_011511534.1:n.2028-54_2028-53insC
XM_017007318.1:c.1701-54_1701-53insC	XP_016862807.1:n.1701-54_1701-53insC
XM_017007319.1:c.2028-54_2028-53insC	XP_016862808.1:n.2028-54_2028-53insC
XR_001740324.2:n.2098-54_2098-53insC
XR_001740325.1:n.2098-54_2098-53insC
XR_002959602.1:n.2262-54_2262-53insC
XR_924191.3:n.2098-54_2098-53insC
NM_032279.4:c.2028-54_2028-53insC MANE Select	NP_115655.2:n.2028-54_2028-53insC