Canonical Allele Identifier: CA2758547

Gene: ATP13A4

Linked Data

• dbSNP Id: rs777649454
• ExAC: 3:193185233 TC / T
• gnomAD v2: 3-193185233-TC-T
• gnomAD v4: 3-193467444-TC-T
• MyVariant Identifiers: chr3:g.193185234del (hg19) ; chr3:g.193467445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467446del , CM000665.2:g.193467446del	GRCh38
NC_000003.11:g.193185235del , CM000665.1:g.193185235del	GRCh37
NC_000003.10:g.194667929del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.985del MANE Select	ENSP00000339182.4:p.Asp329IlefsTer?
ENST00000295548.3:c.985del	ENSP00000295548.3:p.Asp329IlefsTer?
ENST00000342695.8:c.985del	ENSP00000339182.4:p.Asp329IlefsTer?
ENST00000392443.7:c.985del	ENSP00000376238.3:p.Asp329IlefsTer?
ENST00000450950.6:c.*428del	ENSP00000402023.2:n.*428del
ENST00000490925.5:n.1093del
NM_032279.3:c.985del	NP_115655.2:p.Asp329IlefsTer?
XM_005247829.2:c.985del	XP_005247886.1:p.Asp329IlefsTer?
XM_011513232.1:c.985del	XP_011511534.1:p.Asp329IlefsTer?
XR_241512.2:n.1286del
XR_924191.1:n.1286del
XM_011513232.2:c.985del	XP_011511534.1:p.Asp329IlefsTer?
XM_017007318.1:c.658del	XP_016862807.1:p.Asp220IlefsTer?
XM_017007319.1:c.985del	XP_016862808.1:p.Asp329IlefsTer?
XR_001740324.2:n.1055del
XR_001740325.1:n.1055del
XR_002959602.1:n.1219del
XR_924191.3:n.1055del
NM_032279.4:c.985del MANE Select	NP_115655.2:p.Asp329IlefsTer?