Canonical Allele Identifier: CA2840346301
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986839dup , CM000663.2:g.16986839dup GRCh38
NC_000001.10:g.17313334dup , CM000663.1:g.17313334dup GRCh37
NC_000001.9:g.17185921dup NCBI36
NG_009054.1:g.30094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3205dup MANE Select ENSP00000327214.8:p.Ala1069GlyfsTer?
ENST00000326735.12:c.3205dup ENSP00000327214.8:p.Ala1069GlyfsTer?
ENST00000341676.9:c.3073dup ENSP00000341115.5:p.Ala1025GlyfsTer11
ENST00000452699.5:c.3190dup ENSP00000413307.1:p.Ala1064GlyfsTer?
ENST00000466561.1:n.1079dup
ENST00000502418.1:c.793dup ENSP00000423065.1:p.Ala265GlyfsTer11
NM_001141973.2:c.3190dup NP_001135445.1:p.Ala1064GlyfsTer?
NM_001141974.2:c.3073dup NP_001135446.1:p.Ala1025GlyfsTer11
NM_022089.3:c.3205dup NP_071372.1:p.Ala1069GlyfsTer?
XM_005245809.1:c.3205dup XP_005245866.1:p.Ala1069GlyfsTer11
XM_005245810.1:c.3202dup XP_005245867.1:p.Ala1068GlyfsTer11
XM_005245811.1:c.3190dup XP_005245868.1:p.Ala1064GlyfsTer11
XM_005245812.1:c.3178dup XP_005245869.1:p.Ala1060GlyfsTer11
XM_005245813.1:c.3145dup XP_005245870.1:p.Ala1049GlyfsTer11
XM_005245815.1:c.3088dup XP_005245872.1:p.Ala1030GlyfsTer11
XM_006710512.1:c.3187dup XP_006710575.1:p.Ala1063GlyfsTer11
XM_006710513.1:c.3163dup XP_006710576.1:p.Ala1055GlyfsTer11
XM_011541128.1:c.3190dup XP_011539430.1:p.Ala1064GlyfsTer11
XM_011541129.1:c.2998dup XP_011539431.1:p.Ala1000GlyfsTer11
XM_017000844.1:c.3190dup XP_016856333.1:p.Ala1064GlyfsTer?
XM_017000845.1:c.3187dup XP_016856334.1:p.Ala1063GlyfsTer?
XM_017000846.1:c.3163dup XP_016856335.1:p.Ala1055GlyfsTer?
XM_017000847.1:c.3160dup XP_016856336.1:p.Ala1054GlyfsTer?
XM_017000848.1:c.3088dup XP_016856337.1:p.Ala1030GlyfsTer?
XM_017000849.1:c.3073dup XP_016856338.1:p.Ala1025GlyfsTer?
XM_017000850.1:c.2998dup XP_016856339.1:p.Ala1000GlyfsTer?
NM_022089.4:c.3205dup MANE Select NP_071372.1:p.Ala1069GlyfsTer?
NM_001141973.3:c.3190dup NP_001135445.1:p.Ala1064GlyfsTer?
NM_001141974.3:c.3073dup NP_001135446.1:p.Ala1025GlyfsTer11