Canonical Allele Identifier: CA1430187647

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467444_193467445delinsTC , CM000665.2:g.193467444_193467445delinsTC	GRCh38
NC_000003.11:g.193185233_193185234delinsTC , CM000665.1:g.193185233_193185234delinsTC	GRCh37
NC_000003.10:g.194667927_194667928delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.985_986delinsGA MANE Select	ENSP00000339182.4:p.Asp329=
ENST00000295548.3:c.985_986delinsGA	ENSP00000295548.3:p.Asp329=
ENST00000342695.8:c.985_986delinsGA	ENSP00000339182.4:p.Asp329=
ENST00000392443.7:c.985_986delinsGA	ENSP00000376238.3:p.Asp329=
ENST00000450950.6:c.*428_*429delinsGA	ENSP00000402023.2:n.*428_*429delinsGA
ENST00000490925.5:n.1093_1094delinsGA
NM_032279.3:c.985_986delinsGA	NP_115655.2:p.Asp329=
XM_005247829.2:c.985_986delinsGA	XP_005247886.1:p.Asp329=
XM_011513232.1:c.985_986delinsGA	XP_011511534.1:p.Asp329=
XR_241512.2:n.1286_1287delinsGA
XR_924191.1:n.1286_1287delinsGA
XM_011513232.2:c.985_986delinsGA	XP_011511534.1:p.Asp329=
XM_017007318.1:c.658_659delinsGA	XP_016862807.1:p.Asp220=
XM_017007319.1:c.985_986delinsGA	XP_016862808.1:p.Asp329=
XR_001740324.2:n.1055_1056delinsGA
XR_001740325.1:n.1055_1056delinsGA
XR_002959602.1:n.1219_1220delinsGA
XR_924191.3:n.1055_1056delinsGA
NM_032279.4:c.985_986delinsGA MANE Select	NP_115655.2:p.Asp329=