Canonical Allele Identifier: CA1156050006
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986647_16986651delinsGTCTC , CM000663.2:g.16986647_16986651delinsGTCTC GRCh38
NC_000001.10:g.17313142_17313146delinsGTCTC , CM000663.1:g.17313142_17313146delinsGTCTC GRCh37
NC_000001.9:g.17185729_17185733delinsGTCTC NCBI36
NG_009054.1:g.30278_30282delinsGAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3236-19_3236-15delinsGAGAC MANE Select ENSP00000327214.8:n.3236-19_3236-15delinsGAGAC
ENST00000326735.12:c.3236-19_3236-15delinsGAGAC ENSP00000327214.8:n.3236-19_3236-15delinsGAGAC
ENST00000341676.9:c.3103+154_3103+158delinsGAGAC ENSP00000341115.5:n.3103+154_3103+158delinsGAGAC
ENST00000452699.5:c.3221-19_3221-15delinsGAGAC ENSP00000413307.1:n.3221-19_3221-15delinsGAGAC
ENST00000466561.1:n.1263_1267delinsGAGAC
ENST00000502418.1:c.823+154_823+158delinsGAGAC ENSP00000423065.1:n.823+154_823+158delinsGAGAC
NM_001141973.2:c.3221-19_3221-15delinsGAGAC NP_001135445.1:n.3221-19_3221-15delinsGAGAC
NM_001141974.2:c.3103+154_3103+158delinsGAGAC NP_001135446.1:n.3103+154_3103+158delinsGAGAC
NM_022089.3:c.3236-19_3236-15delinsGAGAC NP_071372.1:n.3236-19_3236-15delinsGAGAC
XM_005245809.1:c.3235+154_3235+158delinsGAGAC XP_005245866.1:n.3235+154_3235+158delinsGAGAC
XM_005245810.1:c.3232+154_3232+158delinsGAGAC XP_005245867.1:n.3232+154_3232+158delinsGAGAC
XM_005245811.1:c.3220+154_3220+158delinsGAGAC XP_005245868.1:n.3220+154_3220+158delinsGAGAC
XM_005245812.1:c.3208+154_3208+158delinsGAGAC XP_005245869.1:n.3208+154_3208+158delinsGAGAC
XM_005245813.1:c.3175+154_3175+158delinsGAGAC XP_005245870.1:n.3175+154_3175+158delinsGAGAC
XM_005245815.1:c.3118+154_3118+158delinsGAGAC XP_005245872.1:n.3118+154_3118+158delinsGAGAC
XM_006710512.1:c.3217+154_3217+158delinsGAGAC XP_006710575.1:n.3217+154_3217+158delinsGAGAC
XM_006710513.1:c.3193+154_3193+158delinsGAGAC XP_006710576.1:n.3193+154_3193+158delinsGAGAC
XM_011541128.1:c.3220+154_3220+158delinsGAGAC XP_011539430.1:n.3220+154_3220+158delinsGAGAC
XM_011541129.1:c.3028+154_3028+158delinsGAGAC XP_011539431.1:n.3028+154_3028+158delinsGAGAC
XM_017000844.1:c.3221-19_3221-15delinsGAGAC XP_016856333.1:n.3221-19_3221-15delinsGAGAC
XM_017000845.1:c.3218-19_3218-15delinsGAGAC XP_016856334.1:n.3218-19_3218-15delinsGAGAC
XM_017000846.1:c.3194-19_3194-15delinsGAGAC XP_016856335.1:n.3194-19_3194-15delinsGAGAC
XM_017000847.1:c.3191-19_3191-15delinsGAGAC XP_016856336.1:n.3191-19_3191-15delinsGAGAC
XM_017000848.1:c.3119-19_3119-15delinsGAGAC XP_016856337.1:n.3119-19_3119-15delinsGAGAC
XM_017000849.1:c.3104-19_3104-15delinsGAGAC XP_016856338.1:n.3104-19_3104-15delinsGAGAC
XM_017000850.1:c.3029-19_3029-15delinsGAGAC XP_016856339.1:n.3029-19_3029-15delinsGAGAC
NM_022089.4:c.3236-19_3236-15delinsGAGAC MANE Select NP_071372.1:n.3236-19_3236-15delinsGAGAC
NM_001141973.3:c.3221-19_3221-15delinsGAGAC NP_001135445.1:n.3221-19_3221-15delinsGAGAC
NM_001141974.3:c.3103+154_3103+158delinsGAGAC NP_001135446.1:n.3103+154_3103+158delinsGAGAC