Canonical Allele Identifier: CA1156030233

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995943_16995944delinsGC , CM000663.2:g.16995943_16995944delinsGC	GRCh38
NC_000001.10:g.17322438_17322439delinsGC , CM000663.1:g.17322438_17322439delinsGC	GRCh37
NC_000001.9:g.17195025_17195026delinsGC	NCBI36
NG_009054.1:g.20985_20986delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542+32_1542+33delinsGC MANE Select	ENSP00000327214.8:n.1542+32_1542+33delinsGC
ENST00000326735.12:c.1542+32_1542+33delinsGC	ENSP00000327214.8:n.1542+32_1542+33delinsGC
ENST00000341676.9:c.1527+32_1527+33delinsGC	ENSP00000341115.5:n.1527+32_1527+33delinsGC
ENST00000452699.5:c.1527+32_1527+33delinsGC	ENSP00000413307.1:n.1527+32_1527+33delinsGC
ENST00000463860.5:n.1182_1183delinsGC
ENST00000502860.1:n.602_603delinsGC
ENST00000503552.1:c.219+32_219+33delinsGC	ENSP00000421126.1:n.219+32_219+33delinsGC
ENST00000617114.4:c.602_603delinsGC	ENSP00000478781.1:p.Ser201=
NM_001141973.2:c.1527+32_1527+33delinsGC	NP_001135445.1:n.1527+32_1527+33delinsGC
NM_001141974.2:c.1527+32_1527+33delinsGC	NP_001135446.1:n.1527+32_1527+33delinsGC
NM_022089.3:c.1542+32_1542+33delinsGC	NP_071372.1:n.1542+32_1542+33delinsGC
XM_005245809.1:c.1542+32_1542+33delinsGC	XP_005245866.1:n.1542+32_1542+33delinsGC
XM_005245810.1:c.1539+32_1539+33delinsGC	XP_005245867.1:n.1539+32_1539+33delinsGC
XM_005245811.1:c.1527+32_1527+33delinsGC	XP_005245868.1:n.1527+32_1527+33delinsGC
XM_005245812.1:c.1515+32_1515+33delinsGC	XP_005245869.1:n.1515+32_1515+33delinsGC
XM_005245813.1:c.1542+32_1542+33delinsGC	XP_005245870.1:n.1542+32_1542+33delinsGC
XM_005245815.1:c.1542+32_1542+33delinsGC	XP_005245872.1:n.1542+32_1542+33delinsGC
XM_006710512.1:c.1524+32_1524+33delinsGC	XP_006710575.1:n.1524+32_1524+33delinsGC
XM_006710513.1:c.1500+32_1500+33delinsGC	XP_006710576.1:n.1500+32_1500+33delinsGC
XM_011541128.1:c.1527+47_1527+48delinsGC	XP_011539430.1:n.1527+47_1527+48delinsGC
XM_011541129.1:c.1542+32_1542+33delinsGC	XP_011539431.1:n.1542+32_1542+33delinsGC
XM_017000844.1:c.1527+47_1527+48delinsGC	XP_016856333.1:n.1527+47_1527+48delinsGC
XM_017000845.1:c.1524+32_1524+33delinsGC	XP_016856334.1:n.1524+32_1524+33delinsGC
XM_017000846.1:c.1500+32_1500+33delinsGC	XP_016856335.1:n.1500+32_1500+33delinsGC
XM_017000847.1:c.1497+47_1497+48delinsGC	XP_016856336.1:n.1497+47_1497+48delinsGC
XM_017000848.1:c.1542+32_1542+33delinsGC	XP_016856337.1:n.1542+32_1542+33delinsGC
XM_017000849.1:c.1527+32_1527+33delinsGC	XP_016856338.1:n.1527+32_1527+33delinsGC
XM_017000850.1:c.1542+32_1542+33delinsGC	XP_016856339.1:n.1542+32_1542+33delinsGC
NM_022089.4:c.1542+32_1542+33delinsGC MANE Select	NP_071372.1:n.1542+32_1542+33delinsGC
NM_001141973.3:c.1527+32_1527+33delinsGC	NP_001135445.1:n.1527+32_1527+33delinsGC
NM_001141974.3:c.1527+32_1527+33delinsGC	NP_001135446.1:n.1527+32_1527+33delinsGC