Canonical Allele Identifier: CA916118985

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1557661855
• gnomAD v4: 1-16986013-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986018del , CM000663.2:g.16986018del	GRCh38
NC_000001.10:g.17312513del , CM000663.1:g.17312513del	GRCh37
NC_000001.9:g.17185100del	NCBI36
NG_009054.1:g.30915del
NG_029688.1:g.573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*207del MANE Select	ENSP00000327214.8:n.*207del
ENST00000326735.12:c.*207del	ENSP00000327214.8:n.*207del
ENST00000341676.9:c.3448del	ENSP00000341115.5:p.Gln1150SerfsTer12
ENST00000452699.5:c.*207del	ENSP00000413307.1:n.*207del
ENST00000466561.1:n.1796del
ENST00000502418.1:c.1168del	ENSP00000423065.1:p.Gln390SerfsTer?
NM_001141973.2:c.*207del	NP_001135445.1:n.*207del
NM_001141974.2:c.3448del	NP_001135446.1:p.Gln1150SerfsTer12
NM_022089.3:c.*207del	NP_071372.1:n.*207del
XM_005245809.1:c.3580del	XP_005245866.1:p.Gln1194SerfsTer12
XM_005245810.1:c.3577del	XP_005245867.1:p.Gln1193SerfsTer12
XM_005245811.1:c.3565del	XP_005245868.1:p.Gln1189SerfsTer12
XM_005245812.1:c.3553del	XP_005245869.1:p.Gln1185SerfsTer12
XM_005245813.1:c.3520del	XP_005245870.1:p.Gln1174SerfsTer12
XM_005245815.1:c.3463del	XP_005245872.1:p.Gln1155SerfsTer12
XM_006710512.1:c.3562del	XP_006710575.1:p.Gln1188SerfsTer12
XM_006710513.1:c.3538del	XP_006710576.1:p.Gln1180SerfsTer12
XM_011541128.1:c.3565del	XP_011539430.1:p.Gln1189SerfsTer12
XM_011541129.1:c.3373del	XP_011539431.1:p.Gln1125SerfsTer12
XM_017000844.1:c.*207del	XP_016856333.1:n.*207del
XM_017000845.1:c.*207del	XP_016856334.1:n.*207del
XM_017000846.1:c.*207del	XP_016856335.1:n.*207del
XM_017000847.1:c.*207del	XP_016856336.1:n.*207del
XM_017000848.1:c.*207del	XP_016856337.1:n.*207del
XM_017000849.1:c.*207del	XP_016856338.1:n.*207del
XM_017000850.1:c.*207del	XP_016856339.1:n.*207del
NM_022089.4:c.*207del MANE Select	NP_071372.1:n.*207del
NM_001141973.3:c.*207del	NP_001135445.1:n.*207del
NM_001141974.3:c.3448del	NP_001135446.1:p.Gln1150SerfsTer12