Canonical Allele Identifier: CA521449971

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2151865
• ClinVar RCV Id: RCV003079000
• gnomAD v2: 1-17331939-A-AC
• MyVariant Identifiers: chr1:g.17331940_17331941insC (hg19) ; chr1:g.17005445_17005446insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17005450dup , CM000663.2:g.17005450dup	GRCh38
NC_000001.10:g.17331945dup , CM000663.1:g.17331945dup	GRCh37
NC_000001.9:g.17204532dup	NCBI36
NG_009054.1:g.11484dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.217dup MANE Select	ENSP00000327214.8:p.Val73GlyfsTer26
ENST00000617114.5:c.236dup	ENSP00000478781.2:p.Ala80CysfsTer20
ENST00000326735.12:c.217dup	ENSP00000327214.8:p.Val73GlyfsTer26
ENST00000341676.9:c.217dup	ENSP00000341115.5:p.Val73GlyfsTer26
ENST00000452699.5:c.217dup	ENSP00000413307.1:p.Val73GlyfsTer26
ENST00000509619.1:c.194dup
ENST00000510069.5:c.143dup
ENST00000617114.4:c.-630dup	ENSP00000478781.1:n.-630dup
NM_001141973.2:c.217dup	NP_001135445.1:p.Val73GlyfsTer26
NM_001141974.2:c.217dup	NP_001135446.1:p.Val73GlyfsTer26
NM_022089.3:c.217dup	NP_071372.1:p.Val73GlyfsTer26
XM_005245809.1:c.217dup	XP_005245866.1:p.Val73GlyfsTer26
XM_005245810.1:c.217dup	XP_005245867.1:p.Val73GlyfsTer26
XM_005245811.1:c.217dup	XP_005245868.1:p.Val73GlyfsTer26
XM_005245812.1:c.217dup	XP_005245869.1:p.Val73GlyfsTer26
XM_005245813.1:c.217dup	XP_005245870.1:p.Val73GlyfsTer26
XM_005245815.1:c.217dup	XP_005245872.1:p.Val73GlyfsTer26
XM_006710512.1:c.217dup	XP_006710575.1:p.Val73GlyfsTer26
XM_006710513.1:c.217dup	XP_006710576.1:p.Val73GlyfsTer26
XM_011541128.1:c.217dup	XP_011539430.1:p.Val73GlyfsTer26
XM_011541129.1:c.217dup	XP_011539431.1:p.Val73GlyfsTer26
XM_017000844.1:c.217dup	XP_016856333.1:p.Val73GlyfsTer26
XM_017000845.1:c.217dup	XP_016856334.1:p.Val73GlyfsTer26
XM_017000846.1:c.217dup	XP_016856335.1:p.Val73GlyfsTer26
XM_017000847.1:c.217dup	XP_016856336.1:p.Val73GlyfsTer26
XM_017000848.1:c.217dup	XP_016856337.1:p.Val73GlyfsTer26
XM_017000849.1:c.217dup	XP_016856338.1:p.Val73GlyfsTer26
XM_017000850.1:c.217dup	XP_016856339.1:p.Val73GlyfsTer26
NM_022089.4:c.217dup MANE Select	NP_071372.1:p.Val73GlyfsTer26
NM_001141973.3:c.217dup	NP_001135445.1:p.Val73GlyfsTer26
NM_001141974.3:c.217dup	NP_001135446.1:p.Val73GlyfsTer26