Canonical Allele Identifier: CA437428165

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1301332504
• gnomAD v3: 3-193448332-TGAAA-T
• gnomAD v4: 3-193448332-TGAAA-T
• MyVariant Identifiers: chr3:g.193166122_193166125del (hg19) ; chr3:g.193448333_193448336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448333_193448336del , CM000665.2:g.193448333_193448336del	GRCh38
NC_000003.11:g.193166122_193166125del , CM000665.1:g.193166122_193166125del	GRCh37
NC_000003.10:g.194648816_194648819del	NCBI36

Transcript Alleles

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