Canonical Allele Identifier: CA2742637225

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996089_16996090insTTT , CM000663.2:g.16996089_16996090insTTT	GRCh38
NC_000001.10:g.17322584_17322585insTTT , CM000663.1:g.17322584_17322585insTTT	GRCh37
NC_000001.9:g.17195171_17195172insTTT	NCBI36
NG_009054.1:g.20840_20841insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1429_1430insAAA MANE Select	ENSP00000327214.8:p.Ala476_Met477insLys
ENST00000326735.12:c.1429_1430insAAA	ENSP00000327214.8:p.Ala476_Met477insLys
ENST00000341676.9:c.1414_1415insAAA	ENSP00000341115.5:p.Ala471_Met472insLys
ENST00000452699.5:c.1414_1415insAAA	ENSP00000413307.1:p.Ala471_Met472insLys
ENST00000463860.5:n.1037_1038insAAA
ENST00000502860.1:n.457_458insAAA
ENST00000503552.1:c.106_107insAAA	ENSP00000421126.1:p.Ala35_Met36insLys
ENST00000506174.5:c.571_572insAAA	ENSP00000424393.1:p.Ala190_Met191insLys
ENST00000509392.1:n.517_518insAAA
ENST00000617114.4:c.457_458insAAA	ENSP00000478781.1:p.Ala152_Met153insLys
NM_001141973.2:c.1414_1415insAAA	NP_001135445.1:p.Ala471_Met472insLys
NM_001141974.2:c.1414_1415insAAA	NP_001135446.1:p.Ala471_Met472insLys
NM_022089.3:c.1429_1430insAAA	NP_071372.1:p.Ala476_Met477insLys
XM_005245809.1:c.1429_1430insAAA	XP_005245866.1:p.Ala476_Met477insLys
XM_005245810.1:c.1426_1427insAAA	XP_005245867.1:p.Ala475_Met476insLys
XM_005245811.1:c.1414_1415insAAA	XP_005245868.1:p.Ala471_Met472insLys
XM_005245812.1:c.1402_1403insAAA	XP_005245869.1:p.Ala467_Met468insLys
XM_005245813.1:c.1429_1430insAAA	XP_005245870.1:p.Ala476_Met477insLys
XM_005245815.1:c.1429_1430insAAA	XP_005245872.1:p.Ala476_Met477insLys
XM_006710512.1:c.1411_1412insAAA	XP_006710575.1:p.Ala470_Met471insLys
XM_006710513.1:c.1387_1388insAAA	XP_006710576.1:p.Ala462_Met463insLys
XM_011541128.1:c.1429_1430insAAA	XP_011539430.1:p.Ala476_Met477insLys
XM_011541129.1:c.1429_1430insAAA	XP_011539431.1:p.Ala476_Met477insLys
XM_017000844.1:c.1429_1430insAAA	XP_016856333.1:p.Ala476_Met477insLys
XM_017000845.1:c.1411_1412insAAA	XP_016856334.1:p.Ala470_Met471insLys
XM_017000846.1:c.1387_1388insAAA	XP_016856335.1:p.Ala462_Met463insLys
XM_017000847.1:c.1399_1400insAAA	XP_016856336.1:p.Ala466_Met467insLys
XM_017000848.1:c.1429_1430insAAA	XP_016856337.1:p.Ala476_Met477insLys
XM_017000849.1:c.1414_1415insAAA	XP_016856338.1:p.Ala471_Met472insLys
XM_017000850.1:c.1429_1430insAAA	XP_016856339.1:p.Ala476_Met477insLys
NM_022089.4:c.1429_1430insAAA MANE Select	NP_071372.1:p.Ala476_Met477insLys
NM_001141973.3:c.1414_1415insAAA	NP_001135445.1:p.Ala471_Met472insLys
NM_001141974.3:c.1414_1415insAAA	NP_001135446.1:p.Ala471_Met472insLys