Canonical Allele Identifier: CA1156049230
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986228_16986229delinsAG , CM000663.2:g.16986228_16986229delinsAG GRCh38
NC_000001.10:g.17312723_17312724delinsAG , CM000663.1:g.17312723_17312724delinsAG GRCh37
NC_000001.9:g.17185310_17185311delinsAG NCBI36
NG_009054.1:g.30700_30701delinsCT
NG_029688.1:g.358_359delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3535_3536delinsCT MANE Select ENSP00000327214.8:p.Leu1179=
ENST00000326735.12:c.3535_3536delinsCT ENSP00000327214.8:p.Leu1179=
ENST00000341676.9:c.3233_3234delinsCT ENSP00000341115.5:p.Pro1078=
ENST00000452699.5:c.3520_3521delinsCT ENSP00000413307.1:p.Leu1174=
ENST00000466561.1:n.1581_1582delinsCT
ENST00000502418.1:c.953_954delinsCT ENSP00000423065.1:p.Pro318=
NM_001141973.2:c.3520_3521delinsCT NP_001135445.1:p.Leu1174=
NM_001141974.2:c.3233_3234delinsCT NP_001135446.1:p.Pro1078=
NM_022089.3:c.3535_3536delinsCT NP_071372.1:p.Leu1179=
XM_005245809.1:c.3365_3366delinsCT XP_005245866.1:p.Pro1122=
XM_005245810.1:c.3362_3363delinsCT XP_005245867.1:p.Pro1121=
XM_005245811.1:c.3350_3351delinsCT XP_005245868.1:p.Pro1117=
XM_005245812.1:c.3338_3339delinsCT XP_005245869.1:p.Pro1113=
XM_005245813.1:c.3305_3306delinsCT XP_005245870.1:p.Pro1102=
XM_005245815.1:c.3248_3249delinsCT XP_005245872.1:p.Pro1083=
XM_006710512.1:c.3347_3348delinsCT XP_006710575.1:p.Pro1116=
XM_006710513.1:c.3323_3324delinsCT XP_006710576.1:p.Pro1108=
XM_011541128.1:c.3350_3351delinsCT XP_011539430.1:p.Pro1117=
XM_011541129.1:c.3158_3159delinsCT XP_011539431.1:p.Pro1053=
XM_017000844.1:c.3520_3521delinsCT XP_016856333.1:p.Leu1174=
XM_017000845.1:c.3517_3518delinsCT XP_016856334.1:p.Leu1173=
XM_017000846.1:c.3493_3494delinsCT XP_016856335.1:p.Leu1165=
XM_017000847.1:c.3490_3491delinsCT XP_016856336.1:p.Leu1164=
XM_017000848.1:c.3418_3419delinsCT XP_016856337.1:p.Leu1140=
XM_017000849.1:c.3403_3404delinsCT XP_016856338.1:p.Leu1135=
XM_017000850.1:c.3328_3329delinsCT XP_016856339.1:p.Leu1110=
NM_022089.4:c.3535_3536delinsCT MANE Select NP_071372.1:p.Leu1179=
NM_001141973.3:c.3520_3521delinsCT NP_001135445.1:p.Leu1174=
NM_001141974.3:c.3233_3234delinsCT NP_001135446.1:p.Pro1078=