Canonical Allele Identifier: CA1156030692

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996118_16996119delinsAC , CM000663.2:g.16996118_16996119delinsAC	GRCh38
NC_000001.10:g.17322613_17322614delinsAC , CM000663.1:g.17322613_17322614delinsAC	GRCh37
NC_000001.9:g.17195200_17195201delinsAC	NCBI36
NG_009054.1:g.20810_20811delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1399_1400delinsGT MANE Select	ENSP00000327214.8:p.Val467=
ENST00000326735.12:c.1399_1400delinsGT	ENSP00000327214.8:p.Val467=
ENST00000341676.9:c.1384_1385delinsGT	ENSP00000341115.5:p.Val462=
ENST00000452699.5:c.1384_1385delinsGT	ENSP00000413307.1:p.Val462=
ENST00000463860.5:n.1007_1008delinsGT
ENST00000502860.1:n.427_428delinsGT
ENST00000503552.1:c.76_77delinsGT	ENSP00000421126.1:p.Val26=
ENST00000506174.5:c.541_542delinsGT	ENSP00000424393.1:p.Val181=
ENST00000509392.1:n.487_488delinsGT
ENST00000617114.4:c.427_428delinsGT	ENSP00000478781.1:p.Val143=
NM_001141973.2:c.1384_1385delinsGT	NP_001135445.1:p.Val462=
NM_001141974.2:c.1384_1385delinsGT	NP_001135446.1:p.Val462=
NM_022089.3:c.1399_1400delinsGT	NP_071372.1:p.Val467=
XM_005245809.1:c.1399_1400delinsGT	XP_005245866.1:p.Val467=
XM_005245810.1:c.1396_1397delinsGT	XP_005245867.1:p.Val466=
XM_005245811.1:c.1384_1385delinsGT	XP_005245868.1:p.Val462=
XM_005245812.1:c.1372_1373delinsGT	XP_005245869.1:p.Val458=
XM_005245813.1:c.1399_1400delinsGT	XP_005245870.1:p.Val467=
XM_005245815.1:c.1399_1400delinsGT	XP_005245872.1:p.Val467=
XM_006710512.1:c.1381_1382delinsGT	XP_006710575.1:p.Val461=
XM_006710513.1:c.1357_1358delinsGT	XP_006710576.1:p.Val453=
XM_011541128.1:c.1399_1400delinsGT	XP_011539430.1:p.Val467=
XM_011541129.1:c.1399_1400delinsGT	XP_011539431.1:p.Val467=
XM_017000844.1:c.1399_1400delinsGT	XP_016856333.1:p.Val467=
XM_017000845.1:c.1381_1382delinsGT	XP_016856334.1:p.Val461=
XM_017000846.1:c.1357_1358delinsGT	XP_016856335.1:p.Val453=
XM_017000847.1:c.1369_1370delinsGT	XP_016856336.1:p.Val457=
XM_017000848.1:c.1399_1400delinsGT	XP_016856337.1:p.Val467=
XM_017000849.1:c.1384_1385delinsGT	XP_016856338.1:p.Val462=
XM_017000850.1:c.1399_1400delinsGT	XP_016856339.1:p.Val467=
NM_022089.4:c.1399_1400delinsGT MANE Select	NP_071372.1:p.Val467=
NM_001141973.3:c.1384_1385delinsGT	NP_001135445.1:p.Val462=
NM_001141974.3:c.1384_1385delinsGT	NP_001135446.1:p.Val462=