Canonical Allele Identifier: CA2643673567

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16995743-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995749dup , CM000663.2:g.16995749dup	GRCh38
NC_000001.10:g.17322244dup , CM000663.1:g.17322244dup	GRCh37
NC_000001.9:g.17194831dup	NCBI36
NG_009054.1:g.21185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542+232dup MANE Select	ENSP00000327214.8:n.1542+232dup
ENST00000326735.12:c.1542+232dup	ENSP00000327214.8:n.1542+232dup
ENST00000341676.9:c.1527+232dup	ENSP00000341115.5:n.1527+232dup
ENST00000452699.5:c.1527+232dup	ENSP00000413307.1:n.1527+232dup
ENST00000463860.5:n.1382dup
ENST00000503552.1:c.219+232dup	ENSP00000421126.1:n.219+232dup
NM_001141973.2:c.1527+232dup	NP_001135445.1:n.1527+232dup
NM_001141974.2:c.1527+232dup	NP_001135446.1:n.1527+232dup
NM_022089.3:c.1542+232dup	NP_071372.1:n.1542+232dup
XM_005245809.1:c.1542+232dup	XP_005245866.1:n.1542+232dup
XM_005245810.1:c.1539+232dup	XP_005245867.1:n.1539+232dup
XM_005245811.1:c.1527+232dup	XP_005245868.1:n.1527+232dup
XM_005245812.1:c.1515+232dup	XP_005245869.1:n.1515+232dup
XM_005245813.1:c.1542+232dup	XP_005245870.1:n.1542+232dup
XM_005245815.1:c.1542+232dup	XP_005245872.1:n.1542+232dup
XM_006710512.1:c.1524+232dup	XP_006710575.1:n.1524+232dup
XM_006710513.1:c.1500+232dup	XP_006710576.1:n.1500+232dup
XM_011541128.1:c.1527+247dup	XP_011539430.1:n.1527+247dup
XM_011541129.1:c.1542+232dup	XP_011539431.1:n.1542+232dup
XM_017000844.1:c.1527+247dup	XP_016856333.1:n.1527+247dup
XM_017000845.1:c.1524+232dup	XP_016856334.1:n.1524+232dup
XM_017000846.1:c.1500+232dup	XP_016856335.1:n.1500+232dup
XM_017000847.1:c.1497+247dup	XP_016856336.1:n.1497+247dup
XM_017000848.1:c.1542+232dup	XP_016856337.1:n.1542+232dup
XM_017000849.1:c.1527+232dup	XP_016856338.1:n.1527+232dup
XM_017000850.1:c.1542+232dup	XP_016856339.1:n.1542+232dup
NM_022089.4:c.1542+232dup MANE Select	NP_071372.1:n.1542+232dup
NM_001141973.3:c.1527+232dup	NP_001135445.1:n.1527+232dup
NM_001141974.3:c.1527+232dup	NP_001135446.1:n.1527+232dup