Canonical Allele Identifier: CA1430187653

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467451_193467452delinsTG , CM000665.2:g.193467451_193467452delinsTG	GRCh38
NC_000003.11:g.193185240_193185241delinsTG , CM000665.1:g.193185240_193185241delinsTG	GRCh37
NC_000003.10:g.194667934_194667935delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.978_979delinsCA MANE Select	ENSP00000339182.4:p.Pro326=
ENST00000295548.3:c.978_979delinsCA	ENSP00000295548.3:p.Pro326=
ENST00000342695.8:c.978_979delinsCA	ENSP00000339182.4:p.Pro326=
ENST00000392443.7:c.978_979delinsCA	ENSP00000376238.3:p.Pro326=
ENST00000450950.6:c.*421_*422delinsCA	ENSP00000402023.2:n.*421_*422delinsCA
ENST00000490925.5:n.1086_1087delinsCA
NM_032279.3:c.978_979delinsCA	NP_115655.2:p.Pro326=
XM_005247829.2:c.978_979delinsCA	XP_005247886.1:p.Pro326=
XM_011513232.1:c.978_979delinsCA	XP_011511534.1:p.Pro326=
XR_241512.2:n.1279_1280delinsCA
XR_924191.1:n.1279_1280delinsCA
XM_011513232.2:c.978_979delinsCA	XP_011511534.1:p.Pro326=
XM_017007318.1:c.651_652delinsCA	XP_016862807.1:p.Pro217=
XM_017007319.1:c.978_979delinsCA	XP_016862808.1:p.Pro326=
XR_001740324.2:n.1048_1049delinsCA
XR_001740325.1:n.1048_1049delinsCA
XR_002959602.1:n.1212_1213delinsCA
XR_924191.3:n.1048_1049delinsCA
NM_032279.4:c.978_979delinsCA MANE Select	NP_115655.2:p.Pro326=