Canonical Allele Identifier: CA636588

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1968613
• ClinVar RCV Id: RCV002711920
• dbSNP Id: rs747617559
• ExAC: 1:17313381 A / AG
• gnomAD v2: 1-17313381-A-AG
• gnomAD v4: 1-16986886-A-AG
• MyVariant Identifiers: chr1:g.17313381_17313382insG (hg19) ; chr1:g.16986886_16986887insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986887dup , CM000663.2:g.16986887dup	GRCh38
NC_000001.10:g.17313382dup , CM000663.1:g.17313382dup	GRCh37
NC_000001.9:g.17185969dup	NCBI36
NG_009054.1:g.30042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3153dup MANE Select	ENSP00000327214.8:p.Ser1052LeufsTer?
ENST00000326735.12:c.3153dup	ENSP00000327214.8:p.Ser1052LeufsTer?
ENST00000341676.9:c.3021dup	ENSP00000341115.5:p.Ser1008LeufsTer28
ENST00000452699.5:c.3138dup	ENSP00000413307.1:p.Ser1047LeufsTer?
ENST00000466561.1:n.1027dup
ENST00000502418.1:c.741dup	ENSP00000423065.1:p.Ser248LeufsTer28
NM_001141973.2:c.3138dup	NP_001135445.1:p.Ser1047LeufsTer?
NM_001141974.2:c.3021dup	NP_001135446.1:p.Ser1008LeufsTer28
NM_022089.3:c.3153dup	NP_071372.1:p.Ser1052LeufsTer?
XM_005245809.1:c.3153dup	XP_005245866.1:p.Ser1052LeufsTer28
XM_005245810.1:c.3150dup	XP_005245867.1:p.Ser1051LeufsTer28
XM_005245811.1:c.3138dup	XP_005245868.1:p.Ser1047LeufsTer28
XM_005245812.1:c.3126dup	XP_005245869.1:p.Ser1043LeufsTer28
XM_005245813.1:c.3093dup	XP_005245870.1:p.Ser1032LeufsTer28
XM_005245815.1:c.3036dup	XP_005245872.1:p.Ser1013LeufsTer28
XM_006710512.1:c.3135dup	XP_006710575.1:p.Ser1046LeufsTer28
XM_006710513.1:c.3111dup	XP_006710576.1:p.Ser1038LeufsTer28
XM_011541128.1:c.3138dup	XP_011539430.1:p.Ser1047LeufsTer28
XM_011541129.1:c.2946dup	XP_011539431.1:p.Ser983LeufsTer28
XM_017000844.1:c.3138dup	XP_016856333.1:p.Ser1047LeufsTer?
XM_017000845.1:c.3135dup	XP_016856334.1:p.Ser1046LeufsTer?
XM_017000846.1:c.3111dup	XP_016856335.1:p.Ser1038LeufsTer?
XM_017000847.1:c.3108dup	XP_016856336.1:p.Ser1037LeufsTer?
XM_017000848.1:c.3036dup	XP_016856337.1:p.Ser1013LeufsTer?
XM_017000849.1:c.3021dup	XP_016856338.1:p.Ser1008LeufsTer?
XM_017000850.1:c.2946dup	XP_016856339.1:p.Ser983LeufsTer?
NM_022089.4:c.3153dup MANE Select	NP_071372.1:p.Ser1052LeufsTer?
NM_001141973.3:c.3138dup	NP_001135445.1:p.Ser1047LeufsTer?
NM_001141974.3:c.3021dup	NP_001135446.1:p.Ser1008LeufsTer28