Canonical Allele Identifier: CA2758198

Gene: ATP13A4

Linked Data

• dbSNP Id: rs202183512
• ExAC: 3:193166169 CT / C
• gnomAD v2: 3-193166169-CT-C
• gnomAD v4: 3-193448380-CT-C
• COSMIC: COSN18727408 ; COSN18727481
• MyVariant Identifiers: chr3:g.193166171del (hg19) ; chr3:g.193166170del (hg19) ; chr3:g.193448382del (hg38) ; chr3:g.193448381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448389del , CM000665.2:g.193448389del	GRCh38
NC_000003.11:g.193166178del , CM000665.1:g.193166178del	GRCh37
NC_000003.10:g.194648872del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-51del MANE Select	ENSP00000339182.4:n.2028-51del
ENST00000342695.8:c.2028-51del	ENSP00000339182.4:n.2028-51del
ENST00000392443.7:c.1971-51del	ENSP00000376238.3:n.1971-51del
ENST00000428352.5:c.947-51del
ENST00000450950.6:c.*1471-51del	ENSP00000402023.2:n.*1471-51del
ENST00000490925.5:n.2136-51del
NM_032279.3:c.2028-51del	NP_115655.2:n.2028-51del
XM_005247829.2:c.2028-51del	XP_005247886.1:n.2028-51del
XM_011513232.1:c.2028-51del	XP_011511534.1:n.2028-51del
XR_241512.2:n.2329-51del
XR_924191.1:n.2329-51del
XM_011513232.2:c.2028-51del	XP_011511534.1:n.2028-51del
XM_017007318.1:c.1701-51del	XP_016862807.1:n.1701-51del
XM_017007319.1:c.2028-51del	XP_016862808.1:n.2028-51del
XR_001740324.2:n.2098-51del
XR_001740325.1:n.2098-51del
XR_002959602.1:n.2262-51del
XR_924191.3:n.2098-51del
NM_032279.4:c.2028-51del MANE Select	NP_115655.2:n.2028-51del