Canonical Allele Identifier: CA1057878588

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1717083589
• gnomAD v3: 3-193448424-G-GTTC
• gnomAD v4: 3-193448424-G-GTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448424_193448425insTTC , CM000665.2:g.193448424_193448425insTTC	GRCh38
NC_000003.11:g.193166213_193166214insTTC , CM000665.1:g.193166213_193166214insTTC	GRCh37
NC_000003.10:g.194648907_194648908insTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2028-95_2028-94insGAA MANE Select	ENSP00000339182.4:n.2028-95_2028-94insGAA
ENST00000342695.8:c.2028-95_2028-94insGAA	ENSP00000339182.4:n.2028-95_2028-94insGAA
ENST00000392443.7:c.1971-95_1971-94insGAA	ENSP00000376238.3:n.1971-95_1971-94insGAA
ENST00000428352.5:c.947-95_947-94insGAA
ENST00000450950.6:c.*1471-95_*1471-94insGAA	ENSP00000402023.2:n.*1471-95_*1471-94insGAA
ENST00000490925.5:n.2136-95_2136-94insGAA
NM_032279.3:c.2028-95_2028-94insGAA	NP_115655.2:n.2028-95_2028-94insGAA
XM_005247829.2:c.2028-95_2028-94insGAA	XP_005247886.1:n.2028-95_2028-94insGAA
XM_011513232.1:c.2028-95_2028-94insGAA	XP_011511534.1:n.2028-95_2028-94insGAA
XR_241512.2:n.2329-95_2329-94insGAA
XR_924191.1:n.2329-95_2329-94insGAA
XM_011513232.2:c.2028-95_2028-94insGAA	XP_011511534.1:n.2028-95_2028-94insGAA
XM_017007318.1:c.1701-95_1701-94insGAA	XP_016862807.1:n.1701-95_1701-94insGAA
XM_017007319.1:c.2028-95_2028-94insGAA	XP_016862808.1:n.2028-95_2028-94insGAA
XR_001740324.2:n.2098-95_2098-94insGAA
XR_001740325.1:n.2098-95_2098-94insGAA
XR_002959602.1:n.2262-95_2262-94insGAA
XR_924191.3:n.2098-95_2098-94insGAA
NM_032279.4:c.2028-95_2028-94insGAA MANE Select	NP_115655.2:n.2028-95_2028-94insGAA