Canonical Allele Identifier: CA2643668319

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986238-C-CGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986240_16986241insAAGG , CM000663.2:g.16986240_16986241insAAGG	GRCh38
NC_000001.10:g.17312735_17312736insAAGG , CM000663.1:g.17312735_17312736insAAGG	GRCh37
NC_000001.9:g.17185322_17185323insAAGG	NCBI36
NG_009054.1:g.30690_30691insTTCC
NG_029688.1:g.348_349insTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3525_3526insTTCC MANE Select	ENSP00000327214.8:p.Ala1176PhefsTer?
ENST00000326735.12:c.3525_3526insTTCC	ENSP00000327214.8:p.Ala1176PhefsTer?
ENST00000341676.9:c.3223_3224insTTCC	ENSP00000341115.5:p.Arg1075LeufsTer6
ENST00000452699.5:c.3510_3511insTTCC	ENSP00000413307.1:p.Ala1171PhefsTer?
ENST00000466561.1:n.1571_1572insTTCC
ENST00000502418.1:c.943_944insTTCC	ENSP00000423065.1:p.Arg315LeufsTer6
NM_001141973.2:c.3510_3511insTTCC	NP_001135445.1:p.Ala1171PhefsTer?
NM_001141974.2:c.3223_3224insTTCC	NP_001135446.1:p.Arg1075LeufsTer6
NM_022089.3:c.3525_3526insTTCC	NP_071372.1:p.Ala1176PhefsTer?
XM_005245809.1:c.3355_3356insTTCC	XP_005245866.1:p.Arg1119LeufsTer6
XM_005245810.1:c.3352_3353insTTCC	XP_005245867.1:p.Arg1118LeufsTer6
XM_005245811.1:c.3340_3341insTTCC	XP_005245868.1:p.Arg1114LeufsTer6
XM_005245812.1:c.3328_3329insTTCC	XP_005245869.1:p.Arg1110LeufsTer6
XM_005245813.1:c.3295_3296insTTCC	XP_005245870.1:p.Arg1099LeufsTer6
XM_005245815.1:c.3238_3239insTTCC	XP_005245872.1:p.Arg1080LeufsTer6
XM_006710512.1:c.3337_3338insTTCC	XP_006710575.1:p.Arg1113LeufsTer6
XM_006710513.1:c.3313_3314insTTCC	XP_006710576.1:p.Arg1105LeufsTer6
XM_011541128.1:c.3340_3341insTTCC	XP_011539430.1:p.Arg1114LeufsTer6
XM_011541129.1:c.3148_3149insTTCC	XP_011539431.1:p.Arg1050LeufsTer6
XM_017000844.1:c.3510_3511insTTCC	XP_016856333.1:p.Ala1171PhefsTer?
XM_017000845.1:c.3507_3508insTTCC	XP_016856334.1:p.Ala1170PhefsTer?
XM_017000846.1:c.3483_3484insTTCC	XP_016856335.1:p.Ala1162PhefsTer?
XM_017000847.1:c.3480_3481insTTCC	XP_016856336.1:p.Ala1161PhefsTer?
XM_017000848.1:c.3408_3409insTTCC	XP_016856337.1:p.Ala1137PhefsTer?
XM_017000849.1:c.3393_3394insTTCC	XP_016856338.1:p.Ala1132PhefsTer?
XM_017000850.1:c.3318_3319insTTCC	XP_016856339.1:p.Ala1107PhefsTer?
NM_022089.4:c.3525_3526insTTCC MANE Select	NP_071372.1:p.Ala1176PhefsTer?
NM_001141973.3:c.3510_3511insTTCC	NP_001135445.1:p.Ala1171PhefsTer?
NM_001141974.3:c.3223_3224insTTCC	NP_001135446.1:p.Arg1075LeufsTer6