Canonical Allele Identifier: CA2580611135

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1323953
• ClinVar RCV Id: RCV001780658
• dbSNP Id: rs2077109424

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996081_16996084del , CM000663.2:g.16996081_16996084del	GRCh38
NC_000001.10:g.17322576_17322579del , CM000663.1:g.17322576_17322579del	GRCh37
NC_000001.9:g.17195163_17195166del	NCBI36
NG_009054.1:g.20847_20850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1436_1439del MANE Select	ENSP00000327214.8:p.Val479AlafsTer?
ENST00000326735.12:c.1436_1439del	ENSP00000327214.8:p.Val479AlafsTer?
ENST00000341676.9:c.1421_1424del	ENSP00000341115.5:p.Val474AlafsTer?
ENST00000452699.5:c.1421_1424del	ENSP00000413307.1:p.Val474AlafsTer?
ENST00000463860.5:n.1044_1047del
ENST00000502860.1:n.464_467del
ENST00000503552.1:c.113_116del	ENSP00000421126.1:p.Val38AlafsTer?
ENST00000509392.1:n.524_527del
ENST00000617114.4:c.464_467del	ENSP00000478781.1:p.Val155AlafsTer?
NM_001141973.2:c.1421_1424del	NP_001135445.1:p.Val474AlafsTer?
NM_001141974.2:c.1421_1424del	NP_001135446.1:p.Val474AlafsTer?
NM_022089.3:c.1436_1439del	NP_071372.1:p.Val479AlafsTer?
XM_005245809.1:c.1436_1439del	XP_005245866.1:p.Val479AlafsTer?
XM_005245810.1:c.1433_1436del	XP_005245867.1:p.Val478AlafsTer?
XM_005245811.1:c.1421_1424del	XP_005245868.1:p.Val474AlafsTer?
XM_005245812.1:c.1409_1412del	XP_005245869.1:p.Val470AlafsTer?
XM_005245813.1:c.1436_1439del	XP_005245870.1:p.Val479AlafsTer?
XM_005245815.1:c.1436_1439del	XP_005245872.1:p.Val479AlafsTer?
XM_006710512.1:c.1418_1421del	XP_006710575.1:p.Val473AlafsTer?
XM_006710513.1:c.1394_1397del	XP_006710576.1:p.Val465AlafsTer?
XM_011541128.1:c.1436_1439del	XP_011539430.1:p.Val479AlafsTer30
XM_011541129.1:c.1436_1439del	XP_011539431.1:p.Val479AlafsTer?
XM_017000844.1:c.1436_1439del	XP_016856333.1:p.Val479AlafsTer30
XM_017000845.1:c.1418_1421del	XP_016856334.1:p.Val473AlafsTer?
XM_017000846.1:c.1394_1397del	XP_016856335.1:p.Val465AlafsTer?
XM_017000847.1:c.1406_1409del	XP_016856336.1:p.Val469AlafsTer30
XM_017000848.1:c.1436_1439del	XP_016856337.1:p.Val479AlafsTer?
XM_017000849.1:c.1421_1424del	XP_016856338.1:p.Val474AlafsTer?
XM_017000850.1:c.1436_1439del	XP_016856339.1:p.Val479AlafsTer?
NM_022089.4:c.1436_1439del MANE Select	NP_071372.1:p.Val479AlafsTer?
NM_001141973.3:c.1421_1424del	NP_001135445.1:p.Val474AlafsTer?
NM_001141974.3:c.1421_1424del	NP_001135446.1:p.Val474AlafsTer?