Canonical Allele Identifier: CA1430177631

Gene: ATP13A4

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193448332_193448336delinsTGAAA , CM000665.2:g.193448332_193448336delinsTGAAA	GRCh38
NC_000003.11:g.193166121_193166125delinsTGAAA , CM000665.1:g.193166121_193166125delinsTGAAA	GRCh37
NC_000003.10:g.194648815_194648819delinsTGAAA	NCBI36

Transcript Alleles

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