Canonical Allele Identifier: CA1156050500

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986887_16986889delinsGAA , CM000663.2:g.16986887_16986889delinsGAA	GRCh38
NC_000001.10:g.17313382_17313384delinsGAA , CM000663.1:g.17313382_17313384delinsGAA	GRCh37
NC_000001.9:g.17185969_17185971delinsGAA	NCBI36
NG_009054.1:g.30040_30042delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3151_3153delinsTTC MANE Select	ENSP00000327214.8:p.Phe1051=
ENST00000326735.12:c.3151_3153delinsTTC	ENSP00000327214.8:p.Phe1051=
ENST00000341676.9:c.3019_3021delinsTTC	ENSP00000341115.5:p.Phe1007=
ENST00000452699.5:c.3136_3138delinsTTC	ENSP00000413307.1:p.Phe1046=
ENST00000466561.1:n.1025_1027delinsTTC
ENST00000502418.1:c.739_741delinsTTC	ENSP00000423065.1:p.Phe247=
NM_001141973.2:c.3136_3138delinsTTC	NP_001135445.1:p.Phe1046=
NM_001141974.2:c.3019_3021delinsTTC	NP_001135446.1:p.Phe1007=
NM_022089.3:c.3151_3153delinsTTC	NP_071372.1:p.Phe1051=
XM_005245809.1:c.3151_3153delinsTTC	XP_005245866.1:p.Phe1051=
XM_005245810.1:c.3148_3150delinsTTC	XP_005245867.1:p.Phe1050=
XM_005245811.1:c.3136_3138delinsTTC	XP_005245868.1:p.Phe1046=
XM_005245812.1:c.3124_3126delinsTTC	XP_005245869.1:p.Phe1042=
XM_005245813.1:c.3091_3093delinsTTC	XP_005245870.1:p.Phe1031=
XM_005245815.1:c.3034_3036delinsTTC	XP_005245872.1:p.Phe1012=
XM_006710512.1:c.3133_3135delinsTTC	XP_006710575.1:p.Phe1045=
XM_006710513.1:c.3109_3111delinsTTC	XP_006710576.1:p.Phe1037=
XM_011541128.1:c.3136_3138delinsTTC	XP_011539430.1:p.Phe1046=
XM_011541129.1:c.2944_2946delinsTTC	XP_011539431.1:p.Phe982=
XM_017000844.1:c.3136_3138delinsTTC	XP_016856333.1:p.Phe1046=
XM_017000845.1:c.3133_3135delinsTTC	XP_016856334.1:p.Phe1045=
XM_017000846.1:c.3109_3111delinsTTC	XP_016856335.1:p.Phe1037=
XM_017000847.1:c.3106_3108delinsTTC	XP_016856336.1:p.Phe1036=
XM_017000848.1:c.3034_3036delinsTTC	XP_016856337.1:p.Phe1012=
XM_017000849.1:c.3019_3021delinsTTC	XP_016856338.1:p.Phe1007=
XM_017000850.1:c.2944_2946delinsTTC	XP_016856339.1:p.Phe982=
NM_022089.4:c.3151_3153delinsTTC MANE Select	NP_071372.1:p.Phe1051=
NM_001141973.3:c.3136_3138delinsTTC	NP_001135445.1:p.Phe1046=
NM_001141974.3:c.3019_3021delinsTTC	NP_001135446.1:p.Phe1007=