Canonical Allele Identifier: CA2574234394

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996035-AGAAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996037_16996042del , CM000663.2:g.16996037_16996042del	GRCh38
NC_000001.10:g.17322532_17322537del , CM000663.1:g.17322532_17322537del	GRCh37
NC_000001.9:g.17195119_17195124del	NCBI36
NG_009054.1:g.20888_20893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1477_1482del MANE Select	ENSP00000327214.8:p.Ile493_Phe494del
ENST00000326735.12:c.1477_1482del	ENSP00000327214.8:p.Ile493_Phe494del
ENST00000341676.9:c.1462_1467del	ENSP00000341115.5:p.Ile488_Phe489del
ENST00000452699.5:c.1462_1467del	ENSP00000413307.1:p.Ile488_Phe489del
ENST00000463860.5:n.1085_1090del
ENST00000502860.1:n.505_510del
ENST00000503552.1:c.154_159del	ENSP00000421126.1:p.Ile52_Phe53del
ENST00000509392.1:n.565_570del
ENST00000617114.4:c.505_510del	ENSP00000478781.1:p.Ile169_Phe170del
NM_001141973.2:c.1462_1467del	NP_001135445.1:p.Ile488_Phe489del
NM_001141974.2:c.1462_1467del	NP_001135446.1:p.Ile488_Phe489del
NM_022089.3:c.1477_1482del	NP_071372.1:p.Ile493_Phe494del
XM_005245809.1:c.1477_1482del	XP_005245866.1:p.Ile493_Phe494del
XM_005245810.1:c.1474_1479del	XP_005245867.1:p.Ile492_Phe493del
XM_005245811.1:c.1462_1467del	XP_005245868.1:p.Ile488_Phe489del
XM_005245812.1:c.1450_1455del	XP_005245869.1:p.Ile484_Phe485del
XM_005245813.1:c.1477_1482del	XP_005245870.1:p.Ile493_Phe494del
XM_005245815.1:c.1477_1482del	XP_005245872.1:p.Ile493_Phe494del
XM_006710512.1:c.1459_1464del	XP_006710575.1:p.Ile487_Phe488del
XM_006710513.1:c.1435_1440del	XP_006710576.1:p.Ile479_Phe480del
XM_011541128.1:c.1477_1482del	XP_011539430.1:p.Ile493_Phe494del
XM_011541129.1:c.1477_1482del	XP_011539431.1:p.Ile493_Phe494del
XM_017000844.1:c.1477_1482del	XP_016856333.1:p.Ile493_Phe494del
XM_017000845.1:c.1459_1464del	XP_016856334.1:p.Ile487_Phe488del
XM_017000846.1:c.1435_1440del	XP_016856335.1:p.Ile479_Phe480del
XM_017000847.1:c.1447_1452del	XP_016856336.1:p.Ile483_Phe484del
XM_017000848.1:c.1477_1482del	XP_016856337.1:p.Ile493_Phe494del
XM_017000849.1:c.1462_1467del	XP_016856338.1:p.Ile488_Phe489del
XM_017000850.1:c.1477_1482del	XP_016856339.1:p.Ile493_Phe494del
NM_022089.4:c.1477_1482del MANE Select	NP_071372.1:p.Ile493_Phe494del
NM_001141973.3:c.1462_1467del	NP_001135445.1:p.Ile488_Phe489del
NM_001141974.3:c.1462_1467del	NP_001135446.1:p.Ile488_Phe489del