Canonical Allele Identifier: CA2643667447

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16985977-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16985977_16985978insA , CM000663.2:g.16985977_16985978insA	GRCh38
NC_000001.10:g.17312472_17312473insA , CM000663.1:g.17312472_17312473insA	GRCh37
NC_000001.9:g.17185059_17185060insA	NCBI36
NG_009054.1:g.30951_30952insT
NG_029688.1:g.609_610insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*243_*244insT MANE Select	ENSP00000327214.8:n.*243_*244insT
ENST00000326735.12:c.*243_*244insT	ENSP00000327214.8:n.*243_*244insT
ENST00000341676.9:c.*7_*8insT	ENSP00000341115.5:n.*7_*8insT
ENST00000452699.5:c.*243_*244insT	ENSP00000413307.1:n.*243_*244insT
ENST00000466561.1:n.1832_1833insT
NM_001141973.2:c.*243_*244insT	NP_001135445.1:n.*243_*244insT
NM_001141974.2:c.*7_*8insT	NP_001135446.1:n.*7_*8insT
NM_022089.3:c.*243_*244insT	NP_071372.1:n.*243_*244insT
XM_005245809.1:c.*7_*8insT	XP_005245866.1:n.*7_*8insT
XM_005245810.1:c.*7_*8insT	XP_005245867.1:n.*7_*8insT
XM_005245811.1:c.*7_*8insT	XP_005245868.1:n.*7_*8insT
XM_005245812.1:c.*7_*8insT	XP_005245869.1:n.*7_*8insT
XM_005245813.1:c.*7_*8insT	XP_005245870.1:n.*7_*8insT
XM_005245815.1:c.*7_*8insT	XP_005245872.1:n.*7_*8insT
XM_006710512.1:c.*7_*8insT	XP_006710575.1:n.*7_*8insT
XM_006710513.1:c.*7_*8insT	XP_006710576.1:n.*7_*8insT
XM_011541128.1:c.*7_*8insT	XP_011539430.1:n.*7_*8insT
XM_011541129.1:c.*7_*8insT	XP_011539431.1:n.*7_*8insT
XM_017000844.1:c.*243_*244insT	XP_016856333.1:n.*243_*244insT
XM_017000845.1:c.*243_*244insT	XP_016856334.1:n.*243_*244insT
XM_017000846.1:c.*243_*244insT	XP_016856335.1:n.*243_*244insT
XM_017000847.1:c.*243_*244insT	XP_016856336.1:n.*243_*244insT
XM_017000848.1:c.*243_*244insT	XP_016856337.1:n.*243_*244insT
XM_017000849.1:c.*243_*244insT	XP_016856338.1:n.*243_*244insT
XM_017000850.1:c.*243_*244insT	XP_016856339.1:n.*243_*244insT
NM_022089.4:c.*243_*244insT MANE Select	NP_071372.1:n.*243_*244insT
NM_001141973.3:c.*243_*244insT	NP_001135445.1:n.*243_*244insT
NM_001141974.3:c.*7_*8insT	NP_001135446.1:n.*7_*8insT