Canonical Allele Identifier: CA3047146805
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986634_16986805del , CM000663.2:g.16986634_16986805del GRCh38
NC_000001.10:g.17313129_17313300del , CM000663.1:g.17313129_17313300del GRCh37
NC_000001.9:g.17185716_17185887del NCBI36
NG_009054.1:g.30125_30296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3235+1_3236-1del
ENST00000326735.12:c.3235+1_3236-1del
ENST00000341676.9:c.3103+1_3103+172del
ENST00000452699.5:c.3220+1_3221-1del
ENST00000466561.1:n.1110_1281del
ENST00000502418.1:c.823+1_823+172del
NM_001141973.2:c.3220+1_3221-1del
NM_001141974.2:c.3103+1_3103+172del
NM_022089.3:c.3235+1_3236-1del
XM_005245809.1:c.3235+1_3235+172del
XM_005245810.1:c.3232+1_3232+172del
XM_005245811.1:c.3220+1_3220+172del
XM_005245812.1:c.3208+1_3208+172del
XM_005245813.1:c.3175+1_3175+172del
XM_005245815.1:c.3118+1_3118+172del
XM_006710512.1:c.3217+1_3217+172del
XM_006710513.1:c.3193+1_3193+172del
XM_011541128.1:c.3220+1_3220+172del
XM_011541129.1:c.3028+1_3028+172del
XM_017000844.1:c.3220+1_3221-1del
XM_017000845.1:c.3217+1_3218-1del
XM_017000846.1:c.3193+1_3194-1del
XM_017000847.1:c.3190+1_3191-1del
XM_017000848.1:c.3118+1_3119-1del
XM_017000849.1:c.3103+1_3104-1del
XM_017000850.1:c.3028+1_3029-1del
NM_022089.4:c.3235+1_3236-1del
NM_001141973.3:c.3220+1_3221-1del
NM_001141974.3:c.3103+1_3103+172del