Canonical Allele Identifier: CA1148224178
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16989747_16989749delinsAAA , CM000663.2:g.16989747_16989749delinsAAA GRCh38
NC_000001.10:g.17316242_17316244delinsAAA , CM000663.1:g.17316242_17316244delinsAAA GRCh37
NC_000001.9:g.17188829_17188831delinsAAA NCBI36
NG_009054.1:g.27180_27182delinsTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2551_2553delinsTTT MANE Select ENSP00000327214.8:p.Phe851=
ENST00000326735.12:c.2551_2553delinsTTT ENSP00000327214.8:p.Phe851=
ENST00000341676.9:c.2419_2421delinsTTT ENSP00000341115.5:p.Phe807=
ENST00000452699.5:c.2536_2538delinsTTT ENSP00000413307.1:p.Phe846=
ENST00000466561.1:n.425_427delinsTTT
ENST00000502418.1:c.139_141delinsTTT ENSP00000423065.1:p.Phe47=
NM_001141973.2:c.2536_2538delinsTTT NP_001135445.1:p.Phe846=
NM_001141974.2:c.2419_2421delinsTTT NP_001135446.1:p.Phe807=
NM_022089.3:c.2551_2553delinsTTT NP_071372.1:p.Phe851=
XM_005245809.1:c.2551_2553delinsTTT XP_005245866.1:p.Phe851=
XM_005245810.1:c.2548_2550delinsTTT XP_005245867.1:p.Phe850=
XM_005245811.1:c.2536_2538delinsTTT XP_005245868.1:p.Phe846=
XM_005245812.1:c.2524_2526delinsTTT XP_005245869.1:p.Phe842=
XM_005245813.1:c.2491_2493delinsTTT XP_005245870.1:p.Phe831=
XM_005245815.1:c.2434_2436delinsTTT XP_005245872.1:p.Phe812=
XM_006710512.1:c.2533_2535delinsTTT XP_006710575.1:p.Phe845=
XM_006710513.1:c.2509_2511delinsTTT XP_006710576.1:p.Phe837=
XM_011541128.1:c.2536_2538delinsTTT XP_011539430.1:p.Phe846=
XM_011541129.1:c.2344_2346delinsTTT XP_011539431.1:p.Phe782=
XM_017000844.1:c.2536_2538delinsTTT XP_016856333.1:p.Phe846=
XM_017000845.1:c.2533_2535delinsTTT XP_016856334.1:p.Phe845=
XM_017000846.1:c.2509_2511delinsTTT XP_016856335.1:p.Phe837=
XM_017000847.1:c.2506_2508delinsTTT XP_016856336.1:p.Phe836=
XM_017000848.1:c.2434_2436delinsTTT XP_016856337.1:p.Phe812=
XM_017000849.1:c.2419_2421delinsTTT XP_016856338.1:p.Phe807=
XM_017000850.1:c.2344_2346delinsTTT XP_016856339.1:p.Phe782=
NM_022089.4:c.2551_2553delinsTTT MANE Select NP_071372.1:p.Phe851=
NM_001141973.3:c.2536_2538delinsTTT NP_001135445.1:p.Phe846=
NM_001141974.3:c.2419_2421delinsTTT NP_001135446.1:p.Phe807=