Canonical Allele Identifier: CA1156029802

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995743_16995746delinsGCCC , CM000663.2:g.16995743_16995746delinsGCCC	GRCh38
NC_000001.10:g.17322238_17322241delinsGCCC , CM000663.1:g.17322238_17322241delinsGCCC	GRCh37
NC_000001.9:g.17194825_17194828delinsGCCC	NCBI36
NG_009054.1:g.21183_21186delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542+230_1542+233delinsGGGC MANE Select	ENSP00000327214.8:n.1542+230_1542+233delinsGGGC
ENST00000326735.12:c.1542+230_1542+233delinsGGGC	ENSP00000327214.8:n.1542+230_1542+233delinsGGGC
ENST00000341676.9:c.1527+230_1527+233delinsGGGC	ENSP00000341115.5:n.1527+230_1527+233delinsGGGC
ENST00000452699.5:c.1527+230_1527+233delinsGGGC	ENSP00000413307.1:n.1527+230_1527+233delinsGGGC
ENST00000463860.5:n.1380_1383delinsGGGC
ENST00000503552.1:c.219+230_219+233delinsGGGC	ENSP00000421126.1:n.219+230_219+233delinsGGGC
NM_001141973.2:c.1527+230_1527+233delinsGGGC	NP_001135445.1:n.1527+230_1527+233delinsGGGC
NM_001141974.2:c.1527+230_1527+233delinsGGGC	NP_001135446.1:n.1527+230_1527+233delinsGGGC
NM_022089.3:c.1542+230_1542+233delinsGGGC	NP_071372.1:n.1542+230_1542+233delinsGGGC
XM_005245809.1:c.1542+230_1542+233delinsGGGC	XP_005245866.1:n.1542+230_1542+233delinsGGGC
XM_005245810.1:c.1539+230_1539+233delinsGGGC	XP_005245867.1:n.1539+230_1539+233delinsGGGC
XM_005245811.1:c.1527+230_1527+233delinsGGGC	XP_005245868.1:n.1527+230_1527+233delinsGGGC
XM_005245812.1:c.1515+230_1515+233delinsGGGC	XP_005245869.1:n.1515+230_1515+233delinsGGGC
XM_005245813.1:c.1542+230_1542+233delinsGGGC	XP_005245870.1:n.1542+230_1542+233delinsGGGC
XM_005245815.1:c.1542+230_1542+233delinsGGGC	XP_005245872.1:n.1542+230_1542+233delinsGGGC
XM_006710512.1:c.1524+230_1524+233delinsGGGC	XP_006710575.1:n.1524+230_1524+233delinsGGGC
XM_006710513.1:c.1500+230_1500+233delinsGGGC	XP_006710576.1:n.1500+230_1500+233delinsGGGC
XM_011541128.1:c.1527+245_1527+248delinsGGGC	XP_011539430.1:n.1527+245_1527+248delinsGGGC
XM_011541129.1:c.1542+230_1542+233delinsGGGC	XP_011539431.1:n.1542+230_1542+233delinsGGGC
XM_017000844.1:c.1527+245_1527+248delinsGGGC	XP_016856333.1:n.1527+245_1527+248delinsGGGC
XM_017000845.1:c.1524+230_1524+233delinsGGGC	XP_016856334.1:n.1524+230_1524+233delinsGGGC
XM_017000846.1:c.1500+230_1500+233delinsGGGC	XP_016856335.1:n.1500+230_1500+233delinsGGGC
XM_017000847.1:c.1497+245_1497+248delinsGGGC	XP_016856336.1:n.1497+245_1497+248delinsGGGC
XM_017000848.1:c.1542+230_1542+233delinsGGGC	XP_016856337.1:n.1542+230_1542+233delinsGGGC
XM_017000849.1:c.1527+230_1527+233delinsGGGC	XP_016856338.1:n.1527+230_1527+233delinsGGGC
XM_017000850.1:c.1542+230_1542+233delinsGGGC	XP_016856339.1:n.1542+230_1542+233delinsGGGC
NM_022089.4:c.1542+230_1542+233delinsGGGC MANE Select	NP_071372.1:n.1542+230_1542+233delinsGGGC
NM_001141973.3:c.1527+230_1527+233delinsGGGC	NP_001135445.1:n.1527+230_1527+233delinsGGGC
NM_001141974.3:c.1527+230_1527+233delinsGGGC	NP_001135446.1:n.1527+230_1527+233delinsGGGC