Canonical Allele Identifier: CA637680

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2930891
• ClinVar RCV Id: RCV003782153
• dbSNP Id: rs769091792
• ExAC: 1:17331495 TGG / T
• gnomAD v2: 1-17331495-TGG-T
• gnomAD v4: 1-17005000-TGG-T
• MyVariant Identifiers: chr1:g.17331496_17331497del (hg19) ; chr1:g.17005001_17005002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17005003_17005004del , CM000663.2:g.17005003_17005004del	GRCh38
NC_000001.10:g.17331498_17331499del , CM000663.1:g.17331498_17331499del	GRCh37
NC_000001.9:g.17204085_17204086del	NCBI36
NG_009054.1:g.11927_11928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.347+12_347+13del MANE Select	ENSP00000327214.8:n.347+12_347+13del
ENST00000326735.12:c.347+12_347+13del	ENSP00000327214.8:n.347+12_347+13del
ENST00000341676.9:c.347+12_347+13del	ENSP00000341115.5:n.347+12_347+13del
ENST00000452699.5:c.347+12_347+13del	ENSP00000413307.1:n.347+12_347+13del
ENST00000508222.5:c.81+12_81+13del
ENST00000509619.1:c.324+12_324+13del
ENST00000510069.5:c.273+12_273+13del
ENST00000511957.5:c.59+12_59+13del	ENSP00000427241.1:n.59+12_59+13del
ENST00000617114.4:c.-500+12_-500+13del	ENSP00000478781.1:n.-500+12_-500+13del
NM_001141973.2:c.347+12_347+13del	NP_001135445.1:n.347+12_347+13del
NM_001141974.2:c.347+12_347+13del	NP_001135446.1:n.347+12_347+13del
NM_022089.3:c.347+12_347+13del	NP_071372.1:n.347+12_347+13del
XM_005245809.1:c.347+12_347+13del	XP_005245866.1:n.347+12_347+13del
XM_005245810.1:c.347+12_347+13del	XP_005245867.1:n.347+12_347+13del
XM_005245811.1:c.347+12_347+13del	XP_005245868.1:n.347+12_347+13del
XM_005245812.1:c.347+12_347+13del	XP_005245869.1:n.347+12_347+13del
XM_005245813.1:c.347+12_347+13del	XP_005245870.1:n.347+12_347+13del
XM_005245815.1:c.347+12_347+13del	XP_005245872.1:n.347+12_347+13del
XM_006710512.1:c.347+12_347+13del	XP_006710575.1:n.347+12_347+13del
XM_006710513.1:c.347+12_347+13del	XP_006710576.1:n.347+12_347+13del
XM_011541128.1:c.347+12_347+13del	XP_011539430.1:n.347+12_347+13del
XM_011541129.1:c.347+12_347+13del	XP_011539431.1:n.347+12_347+13del
XM_017000844.1:c.347+12_347+13del	XP_016856333.1:n.347+12_347+13del
XM_017000845.1:c.347+12_347+13del	XP_016856334.1:n.347+12_347+13del
XM_017000846.1:c.347+12_347+13del	XP_016856335.1:n.347+12_347+13del
XM_017000847.1:c.347+12_347+13del	XP_016856336.1:n.347+12_347+13del
XM_017000848.1:c.347+12_347+13del	XP_016856337.1:n.347+12_347+13del
XM_017000849.1:c.347+12_347+13del	XP_016856338.1:n.347+12_347+13del
XM_017000850.1:c.347+12_347+13del	XP_016856339.1:n.347+12_347+13del
NM_022089.4:c.347+12_347+13del MANE Select	NP_071372.1:n.347+12_347+13del
NM_001141973.3:c.347+12_347+13del	NP_001135445.1:n.347+12_347+13del
NM_001141974.3:c.347+12_347+13del	NP_001135446.1:n.347+12_347+13del