Canonical Allele Identifier: CA999085017

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076715164
• gnomAD v3: 1-16986247-GCGGCCAGGGC-G
• gnomAD v4: 1-16986247-GCGGCCAGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986248_16986257del , CM000663.2:g.16986248_16986257del	GRCh38
NC_000001.10:g.17312743_17312752del , CM000663.1:g.17312743_17312752del	GRCh37
NC_000001.9:g.17185330_17185339del	NCBI36
NG_009054.1:g.30672_30681del
NG_029688.1:g.330_339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3507_3516del MANE Select	ENSP00000327214.8:p.Gln1169HisfsTer8
ENST00000326735.12:c.3507_3516del	ENSP00000327214.8:p.Gln1169HisfsTer8
ENST00000341676.9:c.3205_3214del	ENSP00000341115.5:p.Ala1069ProfsTer9
ENST00000452699.5:c.3492_3501del	ENSP00000413307.1:p.Gln1164HisfsTer8
ENST00000466561.1:n.1553_1562del
ENST00000502418.1:c.925_934del	ENSP00000423065.1:p.Ala309ProfsTer9
NM_001141973.2:c.3492_3501del	NP_001135445.1:p.Gln1164HisfsTer8
NM_001141974.2:c.3205_3214del	NP_001135446.1:p.Ala1069ProfsTer9
NM_022089.3:c.3507_3516del	NP_071372.1:p.Gln1169HisfsTer8
XM_005245809.1:c.3337_3346del	XP_005245866.1:p.Ala1113ProfsTer9
XM_005245810.1:c.3334_3343del	XP_005245867.1:p.Ala1112ProfsTer9
XM_005245811.1:c.3322_3331del	XP_005245868.1:p.Ala1108ProfsTer9
XM_005245812.1:c.3310_3319del	XP_005245869.1:p.Ala1104ProfsTer9
XM_005245813.1:c.3277_3286del	XP_005245870.1:p.Ala1093ProfsTer9
XM_005245815.1:c.3220_3229del	XP_005245872.1:p.Ala1074ProfsTer9
XM_006710512.1:c.3319_3328del	XP_006710575.1:p.Ala1107ProfsTer9
XM_006710513.1:c.3295_3304del	XP_006710576.1:p.Ala1099ProfsTer9
XM_011541128.1:c.3322_3331del	XP_011539430.1:p.Ala1108ProfsTer9
XM_011541129.1:c.3130_3139del	XP_011539431.1:p.Ala1044ProfsTer9
XM_017000844.1:c.3492_3501del	XP_016856333.1:p.Gln1164HisfsTer8
XM_017000845.1:c.3489_3498del	XP_016856334.1:p.Gln1163HisfsTer8
XM_017000846.1:c.3465_3474del	XP_016856335.1:p.Gln1155HisfsTer8
XM_017000847.1:c.3462_3471del	XP_016856336.1:p.Gln1154HisfsTer8
XM_017000848.1:c.3390_3399del	XP_016856337.1:p.Gln1130HisfsTer8
XM_017000849.1:c.3375_3384del	XP_016856338.1:p.Gln1125HisfsTer8
XM_017000850.1:c.3300_3309del	XP_016856339.1:p.Gln1100HisfsTer8
NM_022089.4:c.3507_3516del MANE Select	NP_071372.1:p.Gln1169HisfsTer8
NM_001141973.3:c.3492_3501del	NP_001135445.1:p.Gln1164HisfsTer8
NM_001141974.3:c.3205_3214del	NP_001135446.1:p.Ala1069ProfsTer9