Canonical Allele Identifier: CA637169

Gene: ATP13A2

Linked Data

• dbSNP Id: rs778762696
• ExAC: 1:17322399 CG / C
• gnomAD v4: 1-16995904-CG-C
• MyVariant Identifiers: chr1:g.17322400del (hg19) ; chr1:g.16995905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995907del , CM000663.2:g.16995907del	GRCh38
NC_000001.10:g.17322402del , CM000663.1:g.17322402del	GRCh37
NC_000001.9:g.17194989del	NCBI36
NG_009054.1:g.21024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542+71del MANE Select	ENSP00000327214.8:n.1542+71del
ENST00000326735.12:c.1542+71del	ENSP00000327214.8:n.1542+71del
ENST00000341676.9:c.1527+71del	ENSP00000341115.5:n.1527+71del
ENST00000452699.5:c.1527+71del	ENSP00000413307.1:n.1527+71del
ENST00000463860.5:n.1221del
ENST00000502860.1:n.641del
ENST00000503552.1:c.219+71del	ENSP00000421126.1:n.219+71del
ENST00000617114.4:c.641del	ENSP00000478781.1:p.Pro214ArgfsTer?
NM_001141973.2:c.1527+71del	NP_001135445.1:n.1527+71del
NM_001141974.2:c.1527+71del	NP_001135446.1:n.1527+71del
NM_022089.3:c.1542+71del	NP_071372.1:n.1542+71del
XM_005245809.1:c.1542+71del	XP_005245866.1:n.1542+71del
XM_005245810.1:c.1539+71del	XP_005245867.1:n.1539+71del
XM_005245811.1:c.1527+71del	XP_005245868.1:n.1527+71del
XM_005245812.1:c.1515+71del	XP_005245869.1:n.1515+71del
XM_005245813.1:c.1542+71del	XP_005245870.1:n.1542+71del
XM_005245815.1:c.1542+71del	XP_005245872.1:n.1542+71del
XM_006710512.1:c.1524+71del	XP_006710575.1:n.1524+71del
XM_006710513.1:c.1500+71del	XP_006710576.1:n.1500+71del
XM_011541128.1:c.1527+86del	XP_011539430.1:n.1527+86del
XM_011541129.1:c.1542+71del	XP_011539431.1:n.1542+71del
XM_017000844.1:c.1527+86del	XP_016856333.1:n.1527+86del
XM_017000845.1:c.1524+71del	XP_016856334.1:n.1524+71del
XM_017000846.1:c.1500+71del	XP_016856335.1:n.1500+71del
XM_017000847.1:c.1497+86del	XP_016856336.1:n.1497+86del
XM_017000848.1:c.1542+71del	XP_016856337.1:n.1542+71del
XM_017000849.1:c.1527+71del	XP_016856338.1:n.1527+71del
XM_017000850.1:c.1542+71del	XP_016856339.1:n.1542+71del
NM_022089.4:c.1542+71del MANE Select	NP_071372.1:n.1542+71del
NM_001141973.3:c.1527+71del	NP_001135445.1:n.1527+71del
NM_001141974.3:c.1527+71del	NP_001135446.1:n.1527+71del