Canonical Allele Identifier: CA636632

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 465253
• ClinVar RCV Id: RCV000541447 ; RCV000598921 ; RCV001201356 ; RCV002528398 ; RCV001844194 ; RCV002509424
• dbSNP Id: rs765632065
• ExAC: 1:17313566 AG / A
• gnomAD v2: 1-17313566-AG-A
• gnomAD v3: 1-16987071-AG-A
• gnomAD v4: 1-16987071-AG-A
• MyVariant Identifiers: chr1:g.17313567del (hg19) ; chr1:g.16987072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16987072del , CM000663.2:g.16987072del	GRCh38
NC_000001.10:g.17313567del , CM000663.1:g.17313567del	GRCh37
NC_000001.9:g.17186154del	NCBI36
NG_009054.1:g.29857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3057del MANE Select	ENSP00000327214.8:p.Tyr1020ThrfsTer3
ENST00000326735.12:c.3057del	ENSP00000327214.8:p.Tyr1020ThrfsTer3
ENST00000341676.9:c.2925del	ENSP00000341115.5:p.Tyr976ThrfsTer3
ENST00000452699.5:c.3042del	ENSP00000413307.1:p.Tyr1015ThrfsTer3
ENST00000466561.1:n.931del
ENST00000502418.1:c.645del	ENSP00000423065.1:p.Tyr216ThrfsTer3
NM_001141973.2:c.3042del	NP_001135445.1:p.Tyr1015ThrfsTer3
NM_001141974.2:c.2925del	NP_001135446.1:p.Tyr976ThrfsTer3
NM_022089.3:c.3057del	NP_071372.1:p.Tyr1020ThrfsTer3
XM_005245809.1:c.3057del	XP_005245866.1:p.Tyr1020ThrfsTer3
XM_005245810.1:c.3054del	XP_005245867.1:p.Tyr1019ThrfsTer3
XM_005245811.1:c.3042del	XP_005245868.1:p.Tyr1015ThrfsTer3
XM_005245812.1:c.3030del	XP_005245869.1:p.Tyr1011ThrfsTer3
XM_005245813.1:c.2997del	XP_005245870.1:p.Tyr1000ThrfsTer3
XM_005245815.1:c.2940del	XP_005245872.1:p.Tyr981ThrfsTer3
XM_006710512.1:c.3039del	XP_006710575.1:p.Tyr1014ThrfsTer3
XM_006710513.1:c.3015del	XP_006710576.1:p.Tyr1006ThrfsTer3
XM_011541128.1:c.3042del	XP_011539430.1:p.Tyr1015ThrfsTer3
XM_011541129.1:c.2850del	XP_011539431.1:p.Tyr951ThrfsTer3
XM_017000844.1:c.3042del	XP_016856333.1:p.Tyr1015ThrfsTer3
XM_017000845.1:c.3039del	XP_016856334.1:p.Tyr1014ThrfsTer3
XM_017000846.1:c.3015del	XP_016856335.1:p.Tyr1006ThrfsTer3
XM_017000847.1:c.3012del	XP_016856336.1:p.Tyr1005ThrfsTer3
XM_017000848.1:c.2940del	XP_016856337.1:p.Tyr981ThrfsTer3
XM_017000849.1:c.2925del	XP_016856338.1:p.Tyr976ThrfsTer3
XM_017000850.1:c.2850del	XP_016856339.1:p.Tyr951ThrfsTer3
NM_022089.4:c.3057del MANE Select	NP_071372.1:p.Tyr1020ThrfsTer3
NM_001141973.3:c.3042del	NP_001135445.1:p.Tyr1015ThrfsTer3
NM_001141974.3:c.2925del	NP_001135446.1:p.Tyr976ThrfsTer3