Canonical Allele Identifier: CA521449968

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1557691794
• gnomAD v2: 1-17322504-CA-C
• gnomAD v4: 1-16996009-CA-C
• MyVariant Identifiers: chr1:g.17322505del (hg19) ; chr1:g.16996010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996010del , CM000663.2:g.16996010del	GRCh38
NC_000001.10:g.17322505del , CM000663.1:g.17322505del	GRCh37
NC_000001.9:g.17195092del	NCBI36
NG_009054.1:g.20919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1508del MANE Select	ENSP00000327214.8:p.Leu503ArgfsTer21
ENST00000326735.12:c.1508del	ENSP00000327214.8:p.Leu503ArgfsTer21
ENST00000341676.9:c.1493del	ENSP00000341115.5:p.Leu498ArgfsTer21
ENST00000452699.5:c.1493del	ENSP00000413307.1:p.Leu498ArgfsTer21
ENST00000463860.5:n.1116del
ENST00000502860.1:n.536del
ENST00000503552.1:c.185del	ENSP00000421126.1:p.Leu62ArgfsTer?
ENST00000617114.4:c.536del	ENSP00000478781.1:p.Leu179ArgfsTer?
NM_001141973.2:c.1493del	NP_001135445.1:p.Leu498ArgfsTer21
NM_001141974.2:c.1493del	NP_001135446.1:p.Leu498ArgfsTer21
NM_022089.3:c.1508del	NP_071372.1:p.Leu503ArgfsTer21
XM_005245809.1:c.1508del	XP_005245866.1:p.Leu503ArgfsTer21
XM_005245810.1:c.1505del	XP_005245867.1:p.Leu502ArgfsTer21
XM_005245811.1:c.1493del	XP_005245868.1:p.Leu498ArgfsTer21
XM_005245812.1:c.1481del	XP_005245869.1:p.Leu494ArgfsTer21
XM_005245813.1:c.1508del	XP_005245870.1:p.Leu503ArgfsTer21
XM_005245815.1:c.1508del	XP_005245872.1:p.Leu503ArgfsTer21
XM_006710512.1:c.1490del	XP_006710575.1:p.Leu497ArgfsTer21
XM_006710513.1:c.1466del	XP_006710576.1:p.Leu489ArgfsTer21
XM_011541128.1:c.1508del	XP_011539430.1:p.Leu503ArgfsTer7
XM_011541129.1:c.1508del	XP_011539431.1:p.Leu503ArgfsTer?
XM_017000844.1:c.1508del	XP_016856333.1:p.Leu503ArgfsTer7
XM_017000845.1:c.1490del	XP_016856334.1:p.Leu497ArgfsTer21
XM_017000846.1:c.1466del	XP_016856335.1:p.Leu489ArgfsTer21
XM_017000847.1:c.1478del	XP_016856336.1:p.Leu493ArgfsTer7
XM_017000848.1:c.1508del	XP_016856337.1:p.Leu503ArgfsTer21
XM_017000849.1:c.1493del	XP_016856338.1:p.Leu498ArgfsTer21
XM_017000850.1:c.1508del	XP_016856339.1:p.Leu503ArgfsTer?
NM_022089.4:c.1508del MANE Select	NP_071372.1:p.Leu503ArgfsTer21
NM_001141973.3:c.1493del	NP_001135445.1:p.Leu498ArgfsTer21
NM_001141974.3:c.1493del	NP_001135446.1:p.Leu498ArgfsTer21