Canonical Allele Identifier: CA2830536195

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193438283del , CM000665.2:g.193438283del	GRCh38
NC_000003.11:g.193156072del , CM000665.1:g.193156072del	GRCh37
NC_000003.10:g.194638766del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.2672+193del MANE Select	ENSP00000339182.4:n.2672+193del
ENST00000342695.8:c.2672+193del	ENSP00000339182.4:n.2672+193del
ENST00000392443.7:c.2615+193del	ENSP00000376238.3:n.2615+193del
ENST00000428352.5:c.1591+193del
ENST00000450950.6:c.*2115+193del	ENSP00000402023.2:n.*2115+193del
ENST00000474776.1:n.73+741del
NM_032279.3:c.2672+193del	NP_115655.2:n.2672+193del
XM_005247829.2:c.2672+193del	XP_005247886.1:n.2672+193del
XM_011513232.1:c.2672+193del	XP_011511534.1:n.2672+193del
XR_241512.2:n.2863+741del
XM_011513232.2:c.2672+193del	XP_011511534.1:n.2672+193del
XM_017007318.1:c.2345+193del	XP_016862807.1:n.2345+193del
XM_017007319.1:c.2672+193del	XP_016862808.1:n.2672+193del
XR_001740324.2:n.2632+741del
XR_001740325.1:n.2632+741del
XR_924191.3:n.2810+193del
NM_032279.4:c.2672+193del MANE Select	NP_115655.2:n.2672+193del