Canonical Allele Identifier: CA645512530

Gene: ATP13A2

Linked Data

• COSMIC: COSM2075478 ; COSM4334941

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996009del , CM000663.2:g.16996009del	GRCh38
NC_000001.10:g.17322504del , CM000663.1:g.17322504del	GRCh37
NC_000001.9:g.17195091del	NCBI36
NG_009054.1:g.20925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1514del MANE Select	ENSP00000327214.8:p.Gly505AlafsTer19
ENST00000326735.12:c.1514del	ENSP00000327214.8:p.Gly505AlafsTer19
ENST00000341676.9:c.1499del	ENSP00000341115.5:p.Gly500AlafsTer19
ENST00000452699.5:c.1499del	ENSP00000413307.1:p.Gly500AlafsTer19
ENST00000463860.5:n.1122del
ENST00000502860.1:n.542del
ENST00000503552.1:c.191del	ENSP00000421126.1:p.Gly64AlafsTer29
ENST00000617114.4:c.542del	ENSP00000478781.1:p.Gly181AlafsTer29
NM_001141973.2:c.1499del	NP_001135445.1:p.Gly500AlafsTer19
NM_001141974.2:c.1499del	NP_001135446.1:p.Gly500AlafsTer19
NM_022089.3:c.1514del	NP_071372.1:p.Gly505AlafsTer19
XM_005245809.1:c.1514del	XP_005245866.1:p.Gly505AlafsTer19
XM_005245810.1:c.1511del	XP_005245867.1:p.Gly504AlafsTer19
XM_005245811.1:c.1499del	XP_005245868.1:p.Gly500AlafsTer19
XM_005245812.1:c.1487del	XP_005245869.1:p.Gly496AlafsTer19
XM_005245813.1:c.1514del	XP_005245870.1:p.Gly505AlafsTer19
XM_005245815.1:c.1514del	XP_005245872.1:p.Gly505AlafsTer19
XM_006710512.1:c.1496del	XP_006710575.1:p.Gly499AlafsTer19
XM_006710513.1:c.1472del	XP_006710576.1:p.Gly491AlafsTer19
XM_011541128.1:c.1514del	XP_011539430.1:p.Gly505AlafsTer5
XM_011541129.1:c.1514del	XP_011539431.1:p.Gly505AlafsTer29
XM_017000844.1:c.1514del	XP_016856333.1:p.Gly505AlafsTer5
XM_017000845.1:c.1496del	XP_016856334.1:p.Gly499AlafsTer19
XM_017000846.1:c.1472del	XP_016856335.1:p.Gly491AlafsTer19
XM_017000847.1:c.1484del	XP_016856336.1:p.Gly495AlafsTer5
XM_017000848.1:c.1514del	XP_016856337.1:p.Gly505AlafsTer19
XM_017000849.1:c.1499del	XP_016856338.1:p.Gly500AlafsTer19
XM_017000850.1:c.1514del	XP_016856339.1:p.Gly505AlafsTer29
NM_022089.4:c.1514del MANE Select	NP_071372.1:p.Gly505AlafsTer19
NM_001141973.3:c.1499del	NP_001135445.1:p.Gly500AlafsTer19
NM_001141974.3:c.1499del	NP_001135446.1:p.Gly500AlafsTer19