Canonical Allele Identifier: CA999085425

Gene: ATP13A2

Linked Data

• gnomAD v3: 1-16986843-G-GTATCATTAAAAA
• gnomAD v4: 1-16986843-G-GTATCATTAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986843_16986844insTATCATTAAAAA , CM000663.2:g.16986843_16986844insTATCATTAAAAA	GRCh38
NC_000001.10:g.17313338_17313339insTATCATTAAAAA , CM000663.1:g.17313338_17313339insTATCATTAAAAA	GRCh37
NC_000001.9:g.17185925_17185926insTATCATTAAAAA	NCBI36
NG_009054.1:g.30085_30086insTTTTTAATGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3196_3197insTTTTTAATGATA MANE Select	ENSP00000327214.8:p.Ser1066delinsPhePheAsnAspThr
ENST00000326735.12:c.3196_3197insTTTTTAATGATA	ENSP00000327214.8:p.Ser1066delinsPhePheAsnAspThr
ENST00000341676.9:c.3064_3065insTTTTTAATGATA	ENSP00000341115.5:p.Ser1022delinsPhePheAsnAspThr
ENST00000452699.5:c.3181_3182insTTTTTAATGATA	ENSP00000413307.1:p.Ser1061delinsPhePheAsnAspThr
ENST00000466561.1:n.1070_1071insTTTTTAATGATA
ENST00000502418.1:c.784_785insTTTTTAATGATA	ENSP00000423065.1:p.Ser262delinsPhePheAsnAspThr
NM_001141973.2:c.3181_3182insTTTTTAATGATA	NP_001135445.1:p.Ser1061delinsPhePheAsnAspThr
NM_001141974.2:c.3064_3065insTTTTTAATGATA	NP_001135446.1:p.Ser1022delinsPhePheAsnAspThr
NM_022089.3:c.3196_3197insTTTTTAATGATA	NP_071372.1:p.Ser1066delinsPhePheAsnAspThr
XM_005245809.1:c.3196_3197insTTTTTAATGATA	XP_005245866.1:p.Ser1066delinsPhePheAsnAspThr
XM_005245810.1:c.3193_3194insTTTTTAATGATA	XP_005245867.1:p.Ser1065delinsPhePheAsnAspThr
XM_005245811.1:c.3181_3182insTTTTTAATGATA	XP_005245868.1:p.Ser1061delinsPhePheAsnAspThr
XM_005245812.1:c.3169_3170insTTTTTAATGATA	XP_005245869.1:p.Ser1057delinsPhePheAsnAspThr
XM_005245813.1:c.3136_3137insTTTTTAATGATA	XP_005245870.1:p.Ser1046delinsPhePheAsnAspThr
XM_005245815.1:c.3079_3080insTTTTTAATGATA	XP_005245872.1:p.Ser1027delinsPhePheAsnAspThr
XM_006710512.1:c.3178_3179insTTTTTAATGATA	XP_006710575.1:p.Ser1060delinsPhePheAsnAspThr
XM_006710513.1:c.3154_3155insTTTTTAATGATA	XP_006710576.1:p.Ser1052delinsPhePheAsnAspThr
XM_011541128.1:c.3181_3182insTTTTTAATGATA	XP_011539430.1:p.Ser1061delinsPhePheAsnAspThr
XM_011541129.1:c.2989_2990insTTTTTAATGATA	XP_011539431.1:p.Ser997delinsPhePheAsnAspThr
XM_017000844.1:c.3181_3182insTTTTTAATGATA	XP_016856333.1:p.Ser1061delinsPhePheAsnAspThr
XM_017000845.1:c.3178_3179insTTTTTAATGATA	XP_016856334.1:p.Ser1060delinsPhePheAsnAspThr
XM_017000846.1:c.3154_3155insTTTTTAATGATA	XP_016856335.1:p.Ser1052delinsPhePheAsnAspThr
XM_017000847.1:c.3151_3152insTTTTTAATGATA	XP_016856336.1:p.Ser1051delinsPhePheAsnAspThr
XM_017000848.1:c.3079_3080insTTTTTAATGATA	XP_016856337.1:p.Ser1027delinsPhePheAsnAspThr
XM_017000849.1:c.3064_3065insTTTTTAATGATA	XP_016856338.1:p.Ser1022delinsPhePheAsnAspThr
XM_017000850.1:c.2989_2990insTTTTTAATGATA	XP_016856339.1:p.Ser997delinsPhePheAsnAspThr
NM_022089.4:c.3196_3197insTTTTTAATGATA MANE Select	NP_071372.1:p.Ser1066delinsPhePheAsnAspThr
NM_001141973.3:c.3181_3182insTTTTTAATGATA	NP_001135445.1:p.Ser1061delinsPhePheAsnAspThr
NM_001141974.3:c.3064_3065insTTTTTAATGATA	NP_001135446.1:p.Ser1022delinsPhePheAsnAspThr