Canonical Allele Identifier: CA1156048543

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16985968_16985971delinsTATC , CM000663.2:g.16985968_16985971delinsTATC	GRCh38
NC_000001.10:g.17312463_17312466delinsTATC , CM000663.1:g.17312463_17312466delinsTATC	GRCh37
NC_000001.9:g.17185050_17185053delinsTATC	NCBI36
NG_009054.1:g.30958_30961delinsGATA
NG_029688.1:g.616_619delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*250_*253delinsGATA MANE Select	ENSP00000327214.8:n.*250_*253delinsGATA
ENST00000326735.12:c.*250_*253delinsGATA	ENSP00000327214.8:n.*250_*253delinsGATA
ENST00000341676.9:c.*14_*17delinsGATA	ENSP00000341115.5:n.*14_*17delinsGATA
ENST00000452699.5:c.*250_*253delinsGATA	ENSP00000413307.1:n.*250_*253delinsGATA
ENST00000466561.1:n.1839_1842delinsGATA
NM_001141973.2:c.*250_*253delinsGATA	NP_001135445.1:n.*250_*253delinsGATA
NM_001141974.2:c.*14_*17delinsGATA	NP_001135446.1:n.*14_*17delinsGATA
NM_022089.3:c.*250_*253delinsGATA	NP_071372.1:n.*250_*253delinsGATA
XM_005245809.1:c.*14_*17delinsGATA	XP_005245866.1:n.*14_*17delinsGATA
XM_005245810.1:c.*14_*17delinsGATA	XP_005245867.1:n.*14_*17delinsGATA
XM_005245811.1:c.*14_*17delinsGATA	XP_005245868.1:n.*14_*17delinsGATA
XM_005245812.1:c.*14_*17delinsGATA	XP_005245869.1:n.*14_*17delinsGATA
XM_005245813.1:c.*14_*17delinsGATA	XP_005245870.1:n.*14_*17delinsGATA
XM_005245815.1:c.*14_*17delinsGATA	XP_005245872.1:n.*14_*17delinsGATA
XM_006710512.1:c.*14_*17delinsGATA	XP_006710575.1:n.*14_*17delinsGATA
XM_006710513.1:c.*14_*17delinsGATA	XP_006710576.1:n.*14_*17delinsGATA
XM_011541128.1:c.*14_*17delinsGATA	XP_011539430.1:n.*14_*17delinsGATA
XM_011541129.1:c.*14_*17delinsGATA	XP_011539431.1:n.*14_*17delinsGATA
XM_017000844.1:c.*250_*253delinsGATA	XP_016856333.1:n.*250_*253delinsGATA
XM_017000845.1:c.*250_*253delinsGATA	XP_016856334.1:n.*250_*253delinsGATA
XM_017000846.1:c.*250_*253delinsGATA	XP_016856335.1:n.*250_*253delinsGATA
XM_017000847.1:c.*250_*253delinsGATA	XP_016856336.1:n.*250_*253delinsGATA
XM_017000848.1:c.*250_*253delinsGATA	XP_016856337.1:n.*250_*253delinsGATA
XM_017000849.1:c.*250_*253delinsGATA	XP_016856338.1:n.*250_*253delinsGATA
XM_017000850.1:c.*250_*253delinsGATA	XP_016856339.1:n.*250_*253delinsGATA
NM_022089.4:c.*250_*253delinsGATA MANE Select	NP_071372.1:n.*250_*253delinsGATA
NM_001141973.3:c.*250_*253delinsGATA	NP_001135445.1:n.*250_*253delinsGATA
NM_001141974.3:c.*14_*17delinsGATA	NP_001135446.1:n.*14_*17delinsGATA