Canonical Allele Identifier: CA2643667704

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986078-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986083del , CM000663.2:g.16986083del	GRCh38
NC_000001.10:g.17312578del , CM000663.1:g.17312578del	GRCh37
NC_000001.9:g.17185165del	NCBI36
NG_009054.1:g.30850del
NG_029688.1:g.508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*142del MANE Select	ENSP00000327214.8:n.*142del
ENST00000326735.12:c.*142del	ENSP00000327214.8:n.*142del
ENST00000341676.9:c.3383del	ENSP00000341115.5:p.Pro1128HisfsTer?
ENST00000452699.5:c.*142del	ENSP00000413307.1:n.*142del
ENST00000466561.1:n.1731del
ENST00000502418.1:c.1103del	ENSP00000423065.1:p.Pro368HisfsTer?
NM_001141973.2:c.*142del	NP_001135445.1:n.*142del
NM_001141974.2:c.3383del	NP_001135446.1:p.Pro1128HisfsTer?
NM_022089.3:c.*142del	NP_071372.1:n.*142del
XM_005245809.1:c.3515del	XP_005245866.1:p.Pro1172HisfsTer?
XM_005245810.1:c.3512del	XP_005245867.1:p.Pro1171HisfsTer?
XM_005245811.1:c.3500del	XP_005245868.1:p.Pro1167HisfsTer?
XM_005245812.1:c.3488del	XP_005245869.1:p.Pro1163HisfsTer?
XM_005245813.1:c.3455del	XP_005245870.1:p.Pro1152HisfsTer?
XM_005245815.1:c.3398del	XP_005245872.1:p.Pro1133HisfsTer?
XM_006710512.1:c.3497del	XP_006710575.1:p.Pro1166HisfsTer?
XM_006710513.1:c.3473del	XP_006710576.1:p.Pro1158HisfsTer?
XM_011541128.1:c.3500del	XP_011539430.1:p.Pro1167HisfsTer?
XM_011541129.1:c.3308del	XP_011539431.1:p.Pro1103HisfsTer?
XM_017000844.1:c.*142del	XP_016856333.1:n.*142del
XM_017000845.1:c.*142del	XP_016856334.1:n.*142del
XM_017000846.1:c.*142del	XP_016856335.1:n.*142del
XM_017000847.1:c.*142del	XP_016856336.1:n.*142del
XM_017000848.1:c.*142del	XP_016856337.1:n.*142del
XM_017000849.1:c.*142del	XP_016856338.1:n.*142del
XM_017000850.1:c.*142del	XP_016856339.1:n.*142del
NM_022089.4:c.*142del MANE Select	NP_071372.1:n.*142del
NM_001141973.3:c.*142del	NP_001135445.1:n.*142del
NM_001141974.3:c.3383del	NP_001135446.1:p.Pro1128HisfsTer?