Canonical Allele Identifier: CA2643668396

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986241-G-GCAGCGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986245_16986254dup , CM000663.2:g.16986245_16986254dup	GRCh38
NC_000001.10:g.17312740_17312749dup , CM000663.1:g.17312740_17312749dup	GRCh37
NC_000001.9:g.17185327_17185336dup	NCBI36
NG_009054.1:g.30678_30687dup
NG_029688.1:g.336_345dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3513_3522dup MANE Select	ENSP00000327214.8:p.Pro1175AlafsTer?
ENST00000326735.12:c.3513_3522dup	ENSP00000327214.8:p.Pro1175AlafsTer?
ENST00000341676.9:c.3211_3220dup	ENSP00000341115.5:p.Ala1074GlyfsTer9
ENST00000452699.5:c.3498_3507dup	ENSP00000413307.1:p.Pro1170AlafsTer?
ENST00000466561.1:n.1559_1568dup
ENST00000502418.1:c.931_940dup	ENSP00000423065.1:p.Ala314GlyfsTer9
NM_001141973.2:c.3498_3507dup	NP_001135445.1:p.Pro1170AlafsTer?
NM_001141974.2:c.3211_3220dup	NP_001135446.1:p.Ala1074GlyfsTer9
NM_022089.3:c.3513_3522dup	NP_071372.1:p.Pro1175AlafsTer?
XM_005245809.1:c.3343_3352dup	XP_005245866.1:p.Ala1118GlyfsTer9
XM_005245810.1:c.3340_3349dup	XP_005245867.1:p.Ala1117GlyfsTer9
XM_005245811.1:c.3328_3337dup	XP_005245868.1:p.Ala1113GlyfsTer9
XM_005245812.1:c.3316_3325dup	XP_005245869.1:p.Ala1109GlyfsTer9
XM_005245813.1:c.3283_3292dup	XP_005245870.1:p.Ala1098GlyfsTer9
XM_005245815.1:c.3226_3235dup	XP_005245872.1:p.Ala1079GlyfsTer9
XM_006710512.1:c.3325_3334dup	XP_006710575.1:p.Ala1112GlyfsTer9
XM_006710513.1:c.3301_3310dup	XP_006710576.1:p.Ala1104GlyfsTer9
XM_011541128.1:c.3328_3337dup	XP_011539430.1:p.Ala1113GlyfsTer9
XM_011541129.1:c.3136_3145dup	XP_011539431.1:p.Ala1049GlyfsTer9
XM_017000844.1:c.3498_3507dup	XP_016856333.1:p.Pro1170AlafsTer?
XM_017000845.1:c.3495_3504dup	XP_016856334.1:p.Pro1169AlafsTer?
XM_017000846.1:c.3471_3480dup	XP_016856335.1:p.Pro1161AlafsTer?
XM_017000847.1:c.3468_3477dup	XP_016856336.1:p.Pro1160AlafsTer?
XM_017000848.1:c.3396_3405dup	XP_016856337.1:p.Pro1136AlafsTer?
XM_017000849.1:c.3381_3390dup	XP_016856338.1:p.Pro1131AlafsTer?
XM_017000850.1:c.3306_3315dup	XP_016856339.1:p.Pro1106AlafsTer?
NM_022089.4:c.3513_3522dup MANE Select	NP_071372.1:p.Pro1175AlafsTer?
NM_001141973.3:c.3498_3507dup	NP_001135445.1:p.Pro1170AlafsTer?
NM_001141974.3:c.3211_3220dup	NP_001135446.1:p.Ala1074GlyfsTer9