Canonical Allele Identifier: CA1156050503

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1031329
• ClinVar RCV Id: RCV001333123
• dbSNP Id: rs2076751251

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986888_16986889del , CM000663.2:g.16986888_16986889del	GRCh38
NC_000001.10:g.17313383_17313384del , CM000663.1:g.17313383_17313384del	GRCh37
NC_000001.9:g.17185970_17185971del	NCBI36
NG_009054.1:g.30040_30041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3151_3152del MANE Select	ENSP00000327214.8:p.Phe1051LeufsTer?
ENST00000326735.12:c.3151_3152del	ENSP00000327214.8:p.Phe1051LeufsTer?
ENST00000341676.9:c.3019_3020del	ENSP00000341115.5:p.Phe1007LeufsTer28
ENST00000452699.5:c.3136_3137del	ENSP00000413307.1:p.Phe1046LeufsTer?
ENST00000466561.1:n.1025_1026del
ENST00000502418.1:c.739_740del	ENSP00000423065.1:p.Phe247LeufsTer28
NM_001141973.2:c.3136_3137del	NP_001135445.1:p.Phe1046LeufsTer?
NM_001141974.2:c.3019_3020del	NP_001135446.1:p.Phe1007LeufsTer28
NM_022089.3:c.3151_3152del	NP_071372.1:p.Phe1051LeufsTer?
XM_005245809.1:c.3151_3152del	XP_005245866.1:p.Phe1051LeufsTer28
XM_005245810.1:c.3148_3149del	XP_005245867.1:p.Phe1050LeufsTer28
XM_005245811.1:c.3136_3137del	XP_005245868.1:p.Phe1046LeufsTer28
XM_005245812.1:c.3124_3125del	XP_005245869.1:p.Phe1042LeufsTer28
XM_005245813.1:c.3091_3092del	XP_005245870.1:p.Phe1031LeufsTer28
XM_005245815.1:c.3034_3035del	XP_005245872.1:p.Phe1012LeufsTer28
XM_006710512.1:c.3133_3134del	XP_006710575.1:p.Phe1045LeufsTer28
XM_006710513.1:c.3109_3110del	XP_006710576.1:p.Phe1037LeufsTer28
XM_011541128.1:c.3136_3137del	XP_011539430.1:p.Phe1046LeufsTer28
XM_011541129.1:c.2944_2945del	XP_011539431.1:p.Phe982LeufsTer28
XM_017000844.1:c.3136_3137del	XP_016856333.1:p.Phe1046LeufsTer?
XM_017000845.1:c.3133_3134del	XP_016856334.1:p.Phe1045LeufsTer?
XM_017000846.1:c.3109_3110del	XP_016856335.1:p.Phe1037LeufsTer?
XM_017000847.1:c.3106_3107del	XP_016856336.1:p.Phe1036LeufsTer?
XM_017000848.1:c.3034_3035del	XP_016856337.1:p.Phe1012LeufsTer?
XM_017000849.1:c.3019_3020del	XP_016856338.1:p.Phe1007LeufsTer?
XM_017000850.1:c.2944_2945del	XP_016856339.1:p.Phe982LeufsTer?
NM_022089.4:c.3151_3152del MANE Select	NP_071372.1:p.Phe1051LeufsTer?
NM_001141973.3:c.3136_3137del	NP_001135445.1:p.Phe1046LeufsTer?
NM_001141974.3:c.3019_3020del	NP_001135446.1:p.Phe1007LeufsTer28