Canonical Allele Identifier: CA2830536205
Gene: ATP13A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.194456182_194456185del , CM000665.2:g.194456182_194456185del GRCh38
NC_000003.11:g.194176911_194176914del , CM000665.1:g.194176911_194176914del GRCh37
NC_000003.10:g.195658200_195658203del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439040.6:c.561-222_561-219del ENSP00000416508.1:n.561-222_561-219del
ENST00000642744.2:c.561-222_561-219del ENSP00000493923.2:n.561-222_561-219del
ENST00000687055.1:n.1353-222_1353-219del
ENST00000690810.1:n.502-222_502-219del
ENST00000642744.1:c.480-222_480-219del ENSP00000493923.1:n.480-222_480-219del
ENST00000645319.2:c.561-222_561-219del MANE Select ENSP00000494937.2:n.561-222_561-219del
ENST00000645538.1:c.561-222_561-219del ENSP00000494471.1:n.561-222_561-219del
ENST00000256031.8:c.561-222_561-219del ENSP00000256031.4:n.561-222_561-219del
ENST00000439040.5:c.561-222_561-219del ENSP00000416508.1:n.561-222_561-219del
NM_024524.3:c.561-222_561-219del NP_078800.3:n.561-222_561-219del
XM_005269357.2:c.561-222_561-219del XP_005269414.1:n.561-222_561-219del
XM_005269360.3:c.561-222_561-219del XP_005269417.1:n.561-222_561-219del
XM_011513120.1:c.561-222_561-219del XP_011511422.1:n.561-222_561-219del
XM_011513121.1:c.561-222_561-219del XP_011511423.1:n.561-222_561-219del
XM_011513122.1:c.480-222_480-219del XP_011511424.1:n.480-222_480-219del
XM_011513123.1:c.561-222_561-219del XP_011511425.1:n.561-222_561-219del
XM_011513124.1:c.561-222_561-219del XP_011511426.1:n.561-222_561-219del
XM_005269357.3:c.561-222_561-219del XP_005269414.1:n.561-222_561-219del
XM_011513120.2:c.561-222_561-219del XP_011511422.1:n.561-222_561-219del
XM_011513123.2:c.561-222_561-219del XP_011511425.1:n.561-222_561-219del
XM_011513124.3:c.561-222_561-219del XP_011511426.1:n.561-222_561-219del
NM_001367549.1:c.561-222_561-219del MANE Select NP_001354478.1:n.561-222_561-219del
NM_001374836.1:c.480-222_480-219del NP_001361765.1:n.480-222_480-219del
NR_164666.1:n.1077-222_1077-219del
NR_164667.1:n.1086-222_1086-219del
NM_024524.4:c.561-222_561-219del NP_078800.3:n.561-222_561-219del