Canonical Allele Identifier: CA1156050276
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs2076744986

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986791_16986796del , CM000663.2:g.16986791_16986796del GRCh38
NC_000001.10:g.17313286_17313291del , CM000663.1:g.17313286_17313291del GRCh37
NC_000001.9:g.17185873_17185878del NCBI36
NG_009054.1:g.30140_30145del

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3235+16_3235+21del MANE Select ENSP00000327214.8:n.3235+16_3235+21del
ENST00000326735.12:c.3235+16_3235+21del ENSP00000327214.8:n.3235+16_3235+21del
ENST00000341676.9:c.3103+16_3103+21del ENSP00000341115.5:n.3103+16_3103+21del
ENST00000452699.5:c.3220+16_3220+21del ENSP00000413307.1:n.3220+16_3220+21del
ENST00000466561.1:n.1125_1130del
ENST00000502418.1:c.823+16_823+21del ENSP00000423065.1:n.823+16_823+21del
NM_001141973.2:c.3220+16_3220+21del NP_001135445.1:n.3220+16_3220+21del
NM_001141974.2:c.3103+16_3103+21del NP_001135446.1:n.3103+16_3103+21del
NM_022089.3:c.3235+16_3235+21del NP_071372.1:n.3235+16_3235+21del
XM_005245809.1:c.3235+16_3235+21del XP_005245866.1:n.3235+16_3235+21del
XM_005245810.1:c.3232+16_3232+21del XP_005245867.1:n.3232+16_3232+21del
XM_005245811.1:c.3220+16_3220+21del XP_005245868.1:n.3220+16_3220+21del
XM_005245812.1:c.3208+16_3208+21del XP_005245869.1:n.3208+16_3208+21del
XM_005245813.1:c.3175+16_3175+21del XP_005245870.1:n.3175+16_3175+21del
XM_005245815.1:c.3118+16_3118+21del XP_005245872.1:n.3118+16_3118+21del
XM_006710512.1:c.3217+16_3217+21del XP_006710575.1:n.3217+16_3217+21del
XM_006710513.1:c.3193+16_3193+21del XP_006710576.1:n.3193+16_3193+21del
XM_011541128.1:c.3220+16_3220+21del XP_011539430.1:n.3220+16_3220+21del
XM_011541129.1:c.3028+16_3028+21del XP_011539431.1:n.3028+16_3028+21del
XM_017000844.1:c.3220+16_3220+21del XP_016856333.1:n.3220+16_3220+21del
XM_017000845.1:c.3217+16_3217+21del XP_016856334.1:n.3217+16_3217+21del
XM_017000846.1:c.3193+16_3193+21del XP_016856335.1:n.3193+16_3193+21del
XM_017000847.1:c.3190+16_3190+21del XP_016856336.1:n.3190+16_3190+21del
XM_017000848.1:c.3118+16_3118+21del XP_016856337.1:n.3118+16_3118+21del
XM_017000849.1:c.3103+16_3103+21del XP_016856338.1:n.3103+16_3103+21del
XM_017000850.1:c.3028+16_3028+21del XP_016856339.1:n.3028+16_3028+21del
NM_022089.4:c.3235+16_3235+21del MANE Select NP_071372.1:n.3235+16_3235+21del
NM_001141973.3:c.3220+16_3220+21del NP_001135445.1:n.3220+16_3220+21del
NM_001141974.3:c.3103+16_3103+21del NP_001135446.1:n.3103+16_3103+21del