Canonical Allele Identifier: CA2643668406

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986242-C-CGCCCCCTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986242_16986243insGCCCCCTTGG , CM000663.2:g.16986242_16986243insGCCCCCTTGG	GRCh38
NC_000001.10:g.17312737_17312738insGCCCCCTTGG , CM000663.1:g.17312737_17312738insGCCCCCTTGG	GRCh37
NC_000001.9:g.17185324_17185325insGCCCCCTTGG	NCBI36
NG_009054.1:g.30686_30687insCCAAGGGGGC
NG_029688.1:g.344_345insCCAAGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3521_3522insCCAAGGGGGC MANE Select	ENSP00000327214.8:p.Pro1175GlnfsTer?
ENST00000326735.12:c.3521_3522insCCAAGGGGGC	ENSP00000327214.8:p.Pro1175GlnfsTer?
ENST00000341676.9:c.3219_3220insCCAAGGGGGC	ENSP00000341115.5:p.Ala1074ProfsTer9
ENST00000452699.5:c.3506_3507insCCAAGGGGGC	ENSP00000413307.1:p.Pro1170GlnfsTer?
ENST00000466561.1:n.1567_1568insCCAAGGGGGC
ENST00000502418.1:c.939_940insCCAAGGGGGC	ENSP00000423065.1:p.Ala314ProfsTer9
NM_001141973.2:c.3506_3507insCCAAGGGGGC	NP_001135445.1:p.Pro1170GlnfsTer?
NM_001141974.2:c.3219_3220insCCAAGGGGGC	NP_001135446.1:p.Ala1074ProfsTer9
NM_022089.3:c.3521_3522insCCAAGGGGGC	NP_071372.1:p.Pro1175GlnfsTer?
XM_005245809.1:c.3351_3352insCCAAGGGGGC	XP_005245866.1:p.Ala1118ProfsTer9
XM_005245810.1:c.3348_3349insCCAAGGGGGC	XP_005245867.1:p.Ala1117ProfsTer9
XM_005245811.1:c.3336_3337insCCAAGGGGGC	XP_005245868.1:p.Ala1113ProfsTer9
XM_005245812.1:c.3324_3325insCCAAGGGGGC	XP_005245869.1:p.Ala1109ProfsTer9
XM_005245813.1:c.3291_3292insCCAAGGGGGC	XP_005245870.1:p.Ala1098ProfsTer9
XM_005245815.1:c.3234_3235insCCAAGGGGGC	XP_005245872.1:p.Ala1079ProfsTer9
XM_006710512.1:c.3333_3334insCCAAGGGGGC	XP_006710575.1:p.Ala1112ProfsTer9
XM_006710513.1:c.3309_3310insCCAAGGGGGC	XP_006710576.1:p.Ala1104ProfsTer9
XM_011541128.1:c.3336_3337insCCAAGGGGGC	XP_011539430.1:p.Ala1113ProfsTer9
XM_011541129.1:c.3144_3145insCCAAGGGGGC	XP_011539431.1:p.Ala1049ProfsTer9
XM_017000844.1:c.3506_3507insCCAAGGGGGC	XP_016856333.1:p.Pro1170GlnfsTer?
XM_017000845.1:c.3503_3504insCCAAGGGGGC	XP_016856334.1:p.Pro1169GlnfsTer?
XM_017000846.1:c.3479_3480insCCAAGGGGGC	XP_016856335.1:p.Pro1161GlnfsTer?
XM_017000847.1:c.3476_3477insCCAAGGGGGC	XP_016856336.1:p.Pro1160GlnfsTer?
XM_017000848.1:c.3404_3405insCCAAGGGGGC	XP_016856337.1:p.Pro1136GlnfsTer?
XM_017000849.1:c.3389_3390insCCAAGGGGGC	XP_016856338.1:p.Pro1131GlnfsTer?
XM_017000850.1:c.3314_3315insCCAAGGGGGC	XP_016856339.1:p.Pro1106GlnfsTer?
NM_022089.4:c.3521_3522insCCAAGGGGGC MANE Select	NP_071372.1:p.Pro1175GlnfsTer?
NM_001141973.3:c.3506_3507insCCAAGGGGGC	NP_001135445.1:p.Pro1170GlnfsTer?
NM_001141974.3:c.3219_3220insCCAAGGGGGC	NP_001135446.1:p.Ala1074ProfsTer9