Canonical Allele Identifier: CA915941146

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 642673
• ClinVar RCV Id: RCV000796179
• dbSNP Id: rs1570752813
• gnomAD v4: 1-16986228-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986233del , CM000663.2:g.16986233del	GRCh38
NC_000001.10:g.17312728del , CM000663.1:g.17312728del	GRCh37
NC_000001.9:g.17185315del	NCBI36
NG_009054.1:g.30700del
NG_029688.1:g.358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3535del MANE Select	ENSP00000327214.8:p.Leu1179Ter
ENST00000326735.12:c.3535del	ENSP00000327214.8:p.Leu1179Ter
ENST00000341676.9:c.3233del	ENSP00000341115.5:p.Pro1078LeufsTer3
ENST00000452699.5:c.3520del	ENSP00000413307.1:p.Leu1174Ter
ENST00000466561.1:n.1581del
ENST00000502418.1:c.953del	ENSP00000423065.1:p.Pro318LeufsTer3
NM_001141973.2:c.3520del	NP_001135445.1:p.Leu1174Ter
NM_001141974.2:c.3233del	NP_001135446.1:p.Pro1078LeufsTer3
NM_022089.3:c.3535del	NP_071372.1:p.Leu1179Ter
XM_005245809.1:c.3365del	XP_005245866.1:p.Pro1122LeufsTer3
XM_005245810.1:c.3362del	XP_005245867.1:p.Pro1121LeufsTer3
XM_005245811.1:c.3350del	XP_005245868.1:p.Pro1117LeufsTer3
XM_005245812.1:c.3338del	XP_005245869.1:p.Pro1113LeufsTer3
XM_005245813.1:c.3305del	XP_005245870.1:p.Pro1102LeufsTer3
XM_005245815.1:c.3248del	XP_005245872.1:p.Pro1083LeufsTer3
XM_006710512.1:c.3347del	XP_006710575.1:p.Pro1116LeufsTer3
XM_006710513.1:c.3323del	XP_006710576.1:p.Pro1108LeufsTer3
XM_011541128.1:c.3350del	XP_011539430.1:p.Pro1117LeufsTer3
XM_011541129.1:c.3158del	XP_011539431.1:p.Pro1053LeufsTer3
XM_017000844.1:c.3520del	XP_016856333.1:p.Leu1174Ter
XM_017000845.1:c.3517del	XP_016856334.1:p.Leu1173Ter
XM_017000846.1:c.3493del	XP_016856335.1:p.Leu1165Ter
XM_017000847.1:c.3490del	XP_016856336.1:p.Leu1164Ter
XM_017000848.1:c.3418del	XP_016856337.1:p.Leu1140Ter
XM_017000849.1:c.3403del	XP_016856338.1:p.Leu1135Ter
XM_017000850.1:c.3328del	XP_016856339.1:p.Leu1110Ter
NM_022089.4:c.3535del MANE Select	NP_071372.1:p.Leu1179Ter
NM_001141973.3:c.3520del	NP_001135445.1:p.Leu1174Ter
NM_001141974.3:c.3233del	NP_001135446.1:p.Pro1078LeufsTer3