Canonical Allele Identifier: CA2643673122

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16989716-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989719_16989720del , CM000663.2:g.16989719_16989720del	GRCh38
NC_000001.10:g.17316214_17316215del , CM000663.1:g.17316214_17316215del	GRCh37
NC_000001.9:g.17188801_17188802del	NCBI36
NG_009054.1:g.27211_27212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2582_2583del MANE Select	ENSP00000327214.8:p.Glu861AlafsTer21
ENST00000326735.12:c.2582_2583del	ENSP00000327214.8:p.Glu861AlafsTer21
ENST00000341676.9:c.2450_2451del	ENSP00000341115.5:p.Glu817AlafsTer21
ENST00000452699.5:c.2567_2568del	ENSP00000413307.1:p.Glu856AlafsTer21
ENST00000466561.1:n.456_457del
ENST00000502418.1:c.170_171del	ENSP00000423065.1:p.Glu57AlafsTer21
NM_001141973.2:c.2567_2568del	NP_001135445.1:p.Glu856AlafsTer21
NM_001141974.2:c.2450_2451del	NP_001135446.1:p.Glu817AlafsTer21
NM_022089.3:c.2582_2583del	NP_071372.1:p.Glu861AlafsTer21
XM_005245809.1:c.2582_2583del	XP_005245866.1:p.Glu861AlafsTer21
XM_005245810.1:c.2579_2580del	XP_005245867.1:p.Glu860AlafsTer21
XM_005245811.1:c.2567_2568del	XP_005245868.1:p.Glu856AlafsTer21
XM_005245812.1:c.2555_2556del	XP_005245869.1:p.Glu852AlafsTer21
XM_005245813.1:c.2522_2523del	XP_005245870.1:p.Glu841AlafsTer21
XM_005245815.1:c.2465_2466del	XP_005245872.1:p.Glu822AlafsTer21
XM_006710512.1:c.2564_2565del	XP_006710575.1:p.Glu855AlafsTer21
XM_006710513.1:c.2540_2541del	XP_006710576.1:p.Glu847AlafsTer21
XM_011541128.1:c.2567_2568del	XP_011539430.1:p.Glu856AlafsTer21
XM_011541129.1:c.2375_2376del	XP_011539431.1:p.Glu792AlafsTer21
XM_017000844.1:c.2567_2568del	XP_016856333.1:p.Glu856AlafsTer21
XM_017000845.1:c.2564_2565del	XP_016856334.1:p.Glu855AlafsTer21
XM_017000846.1:c.2540_2541del	XP_016856335.1:p.Glu847AlafsTer21
XM_017000847.1:c.2537_2538del	XP_016856336.1:p.Glu846AlafsTer21
XM_017000848.1:c.2465_2466del	XP_016856337.1:p.Glu822AlafsTer21
XM_017000849.1:c.2450_2451del	XP_016856338.1:p.Glu817AlafsTer21
XM_017000850.1:c.2375_2376del	XP_016856339.1:p.Glu792AlafsTer21
NM_022089.4:c.2582_2583del MANE Select	NP_071372.1:p.Glu861AlafsTer21
NM_001141973.3:c.2567_2568del	NP_001135445.1:p.Glu856AlafsTer21
NM_001141974.3:c.2450_2451del	NP_001135446.1:p.Glu817AlafsTer21