Canonical Allele Identifier: CA2669099137

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467419-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467423_193467424del , CM000665.2:g.193467423_193467424del	GRCh38
NC_000003.11:g.193185212_193185213del , CM000665.1:g.193185212_193185213del	GRCh37
NC_000003.10:g.194667906_194667907del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1009_1010del MANE Select	ENSP00000339182.4:p.Gln337GlufsTer2
ENST00000295548.3:c.1009_1010del	ENSP00000295548.3:p.Gln337GlufsTer2
ENST00000342695.8:c.1009_1010del	ENSP00000339182.4:p.Gln337GlufsTer2
ENST00000392443.7:c.1009_1010del	ENSP00000376238.3:p.Gln337GlufsTer2
ENST00000450950.6:c.*452_*453del	ENSP00000402023.2:n.*452_*453del
ENST00000490925.5:n.1117_1118del
NM_032279.3:c.1009_1010del	NP_115655.2:p.Gln337GlufsTer2
XM_005247829.2:c.1009_1010del	XP_005247886.1:p.Gln337GlufsTer2
XM_011513232.1:c.1009_1010del	XP_011511534.1:p.Gln337GlufsTer2
XR_241512.2:n.1310_1311del
XR_924191.1:n.1310_1311del
XM_011513232.2:c.1009_1010del	XP_011511534.1:p.Gln337GlufsTer2
XM_017007318.1:c.682_683del	XP_016862807.1:p.Gln228GlufsTer2
XM_017007319.1:c.1009_1010del	XP_016862808.1:p.Gln337GlufsTer2
XR_001740324.2:n.1079_1080del
XR_001740325.1:n.1079_1080del
XR_002959602.1:n.1243_1244del
XR_924191.3:n.1079_1080del
NM_032279.4:c.1009_1010del MANE Select	NP_115655.2:p.Gln337GlufsTer2