Canonical Allele Identifier: CA1156050492

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986885_16986888delinsGAGA , CM000663.2:g.16986885_16986888delinsGAGA	GRCh38
NC_000001.10:g.17313380_17313383delinsGAGA , CM000663.1:g.17313380_17313383delinsGAGA	GRCh37
NC_000001.9:g.17185967_17185970delinsGAGA	NCBI36
NG_009054.1:g.30041_30044delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3152_3155delinsTCTC MANE Select	ENSP00000327214.8:p.Phe1051=
ENST00000326735.12:c.3152_3155delinsTCTC	ENSP00000327214.8:p.Phe1051=
ENST00000341676.9:c.3020_3023delinsTCTC	ENSP00000341115.5:p.Phe1007=
ENST00000452699.5:c.3137_3140delinsTCTC	ENSP00000413307.1:p.Phe1046=
ENST00000466561.1:n.1026_1029delinsTCTC
ENST00000502418.1:c.740_743delinsTCTC	ENSP00000423065.1:p.Phe247=
NM_001141973.2:c.3137_3140delinsTCTC	NP_001135445.1:p.Phe1046=
NM_001141974.2:c.3020_3023delinsTCTC	NP_001135446.1:p.Phe1007=
NM_022089.3:c.3152_3155delinsTCTC	NP_071372.1:p.Phe1051=
XM_005245809.1:c.3152_3155delinsTCTC	XP_005245866.1:p.Phe1051=
XM_005245810.1:c.3149_3152delinsTCTC	XP_005245867.1:p.Phe1050=
XM_005245811.1:c.3137_3140delinsTCTC	XP_005245868.1:p.Phe1046=
XM_005245812.1:c.3125_3128delinsTCTC	XP_005245869.1:p.Phe1042=
XM_005245813.1:c.3092_3095delinsTCTC	XP_005245870.1:p.Phe1031=
XM_005245815.1:c.3035_3038delinsTCTC	XP_005245872.1:p.Phe1012=
XM_006710512.1:c.3134_3137delinsTCTC	XP_006710575.1:p.Phe1045=
XM_006710513.1:c.3110_3113delinsTCTC	XP_006710576.1:p.Phe1037=
XM_011541128.1:c.3137_3140delinsTCTC	XP_011539430.1:p.Phe1046=
XM_011541129.1:c.2945_2948delinsTCTC	XP_011539431.1:p.Phe982=
XM_017000844.1:c.3137_3140delinsTCTC	XP_016856333.1:p.Phe1046=
XM_017000845.1:c.3134_3137delinsTCTC	XP_016856334.1:p.Phe1045=
XM_017000846.1:c.3110_3113delinsTCTC	XP_016856335.1:p.Phe1037=
XM_017000847.1:c.3107_3110delinsTCTC	XP_016856336.1:p.Phe1036=
XM_017000848.1:c.3035_3038delinsTCTC	XP_016856337.1:p.Phe1012=
XM_017000849.1:c.3020_3023delinsTCTC	XP_016856338.1:p.Phe1007=
XM_017000850.1:c.2945_2948delinsTCTC	XP_016856339.1:p.Phe982=
NM_022089.4:c.3152_3155delinsTCTC MANE Select	NP_071372.1:p.Phe1051=
NM_001141973.3:c.3137_3140delinsTCTC	NP_001135445.1:p.Phe1046=
NM_001141974.3:c.3020_3023delinsTCTC	NP_001135446.1:p.Phe1007=