Canonical Allele Identifier: CA2573105839

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989732_16989733del , CM000663.2:g.16989732_16989733del	GRCh38
NC_000001.10:g.17316227_17316228del , CM000663.1:g.17316227_17316228del	GRCh37
NC_000001.9:g.17188814_17188815del	NCBI36
NG_009054.1:g.27196_27197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2567_2568del MANE Select	ENSP00000327214.8:p.Pro856ArgfsTer26
ENST00000326735.12:c.2567_2568del	ENSP00000327214.8:p.Pro856ArgfsTer26
ENST00000341676.9:c.2435_2436del	ENSP00000341115.5:p.Pro812ArgfsTer26
ENST00000452699.5:c.2552_2553del	ENSP00000413307.1:p.Pro851ArgfsTer26
ENST00000466561.1:n.441_442del
ENST00000502418.1:c.155_156del	ENSP00000423065.1:p.Pro52ArgfsTer26
NM_001141973.2:c.2552_2553del	NP_001135445.1:p.Pro851ArgfsTer26
NM_001141974.2:c.2435_2436del	NP_001135446.1:p.Pro812ArgfsTer26
NM_022089.3:c.2567_2568del	NP_071372.1:p.Pro856ArgfsTer26
XM_005245809.1:c.2567_2568del	XP_005245866.1:p.Pro856ArgfsTer26
XM_005245810.1:c.2564_2565del	XP_005245867.1:p.Pro855ArgfsTer26
XM_005245811.1:c.2552_2553del	XP_005245868.1:p.Pro851ArgfsTer26
XM_005245812.1:c.2540_2541del	XP_005245869.1:p.Pro847ArgfsTer26
XM_005245813.1:c.2507_2508del	XP_005245870.1:p.Pro836ArgfsTer26
XM_005245815.1:c.2450_2451del	XP_005245872.1:p.Pro817ArgfsTer26
XM_006710512.1:c.2549_2550del	XP_006710575.1:p.Pro850ArgfsTer26
XM_006710513.1:c.2525_2526del	XP_006710576.1:p.Pro842ArgfsTer26
XM_011541128.1:c.2552_2553del	XP_011539430.1:p.Pro851ArgfsTer26
XM_011541129.1:c.2360_2361del	XP_011539431.1:p.Pro787ArgfsTer26
XM_017000844.1:c.2552_2553del	XP_016856333.1:p.Pro851ArgfsTer26
XM_017000845.1:c.2549_2550del	XP_016856334.1:p.Pro850ArgfsTer26
XM_017000846.1:c.2525_2526del	XP_016856335.1:p.Pro842ArgfsTer26
XM_017000847.1:c.2522_2523del	XP_016856336.1:p.Pro841ArgfsTer26
XM_017000848.1:c.2450_2451del	XP_016856337.1:p.Pro817ArgfsTer26
XM_017000849.1:c.2435_2436del	XP_016856338.1:p.Pro812ArgfsTer26
XM_017000850.1:c.2360_2361del	XP_016856339.1:p.Pro787ArgfsTer26
NM_022089.4:c.2567_2568del MANE Select	NP_071372.1:p.Pro856ArgfsTer26
NM_001141973.3:c.2552_2553del	NP_001135445.1:p.Pro851ArgfsTer26
NM_001141974.3:c.2435_2436del	NP_001135446.1:p.Pro812ArgfsTer26