Canonical Allele Identifier: CA2758199

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1553841799
• ExAC: 3:193166169 C / CA
• gnomAD v2: 3-193166169-C-CA
• gnomAD v3: 3-193448380-C-CA
• gnomAD v4: 3-193448380-C-CA
• MyVariant Identifiers: chr3:g.193166169_193166170insA (hg19) ; chr3:g.193166170delinsAT (hg19) ; chr3:g.193166170_193166171delinsATT (hg19) ; chr3:g.193448380_193448381insA (hg38) ; chr3:g.193448381_193448382delinsATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448380_193448381insA , CM000665.2:g.193448380_193448381insA	GRCh38
NC_000003.11:g.193166169_193166170insA , CM000665.1:g.193166169_193166170insA	GRCh37
NC_000003.10:g.194648863_194648864insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-51_2028-50insT MANE Select	ENSP00000339182.4:n.2028-51_2028-50insT
ENST00000342695.8:c.2028-51_2028-50insT	ENSP00000339182.4:n.2028-51_2028-50insT
ENST00000392443.7:c.1971-51_1971-50insT	ENSP00000376238.3:n.1971-51_1971-50insT
ENST00000428352.5:c.947-51_947-50insT
ENST00000450950.6:c.*1471-51_*1471-50insT	ENSP00000402023.2:n.*1471-51_*1471-50insT
ENST00000490925.5:n.2136-51_2136-50insT
NM_032279.3:c.2028-51_2028-50insT	NP_115655.2:n.2028-51_2028-50insT
XM_005247829.2:c.2028-51_2028-50insT	XP_005247886.1:n.2028-51_2028-50insT
XM_011513232.1:c.2028-51_2028-50insT	XP_011511534.1:n.2028-51_2028-50insT
XR_241512.2:n.2329-51_2329-50insT
XR_924191.1:n.2329-51_2329-50insT
XM_011513232.2:c.2028-51_2028-50insT	XP_011511534.1:n.2028-51_2028-50insT
XM_017007318.1:c.1701-51_1701-50insT	XP_016862807.1:n.1701-51_1701-50insT
XM_017007319.1:c.2028-51_2028-50insT	XP_016862808.1:n.2028-51_2028-50insT
XR_001740324.2:n.2098-51_2098-50insT
XR_001740325.1:n.2098-51_2098-50insT
XR_002959602.1:n.2262-51_2262-50insT
XR_924191.3:n.2098-51_2098-50insT
NM_032279.4:c.2028-51_2028-50insT MANE Select	NP_115655.2:n.2028-51_2028-50insT