Canonical Allele Identifier: CA2643673199

Gene: ATP13A2

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989752_16989753insGGGGCCATGCGGGCAAAGGC , CM000663.2:g.16989752_16989753insGGGGCCATGCGGGCAAAGGC	GRCh38
NC_000001.10:g.17316247_17316248insGGGGCCATGCGGGCAAAGGC , CM000663.1:g.17316247_17316248insGGGGCCATGCGGGCAAAGGC	GRCh37
NC_000001.9:g.17188834_17188835insGGGGCCATGCGGGCAAAGGC	NCBI36
NG_009054.1:g.27177_27178insCCTTTGCCCGCATGGCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2548_2549insCCTTTGCCCGCATGGCCCCG MANE Select	ENSP00000327214.8:p.Val850AlafsTer?
ENST00000326735.12:c.2548_2549insCCTTTGCCCGCATGGCCCCG	ENSP00000327214.8:p.Val850AlafsTer?
ENST00000341676.9:c.2416_2417insCCTTTGCCCGCATGGCCCCG	ENSP00000341115.5:p.Val806AlafsTer?
ENST00000452699.5:c.2533_2534insCCTTTGCCCGCATGGCCCCG	ENSP00000413307.1:p.Val845AlafsTer?
ENST00000466561.1:n.422_423insCCTTTGCCCGCATGGCCCCG
ENST00000502418.1:c.136_137insCCTTTGCCCGCATGGCCCCG	ENSP00000423065.1:p.Val46AlafsTer?
NM_001141973.2:c.2533_2534insCCTTTGCCCGCATGGCCCCG	NP_001135445.1:p.Val845AlafsTer?
NM_001141974.2:c.2416_2417insCCTTTGCCCGCATGGCCCCG	NP_001135446.1:p.Val806AlafsTer?
NM_022089.3:c.2548_2549insCCTTTGCCCGCATGGCCCCG	NP_071372.1:p.Val850AlafsTer?
XM_005245809.1:c.2548_2549insCCTTTGCCCGCATGGCCCCG	XP_005245866.1:p.Val850AlafsTer?
XM_005245810.1:c.2545_2546insCCTTTGCCCGCATGGCCCCG	XP_005245867.1:p.Val849AlafsTer?
XM_005245811.1:c.2533_2534insCCTTTGCCCGCATGGCCCCG	XP_005245868.1:p.Val845AlafsTer?
XM_005245812.1:c.2521_2522insCCTTTGCCCGCATGGCCCCG	XP_005245869.1:p.Val841AlafsTer?
XM_005245813.1:c.2488_2489insCCTTTGCCCGCATGGCCCCG	XP_005245870.1:p.Val830AlafsTer?
XM_005245815.1:c.2431_2432insCCTTTGCCCGCATGGCCCCG	XP_005245872.1:p.Val811AlafsTer?
XM_006710512.1:c.2530_2531insCCTTTGCCCGCATGGCCCCG	XP_006710575.1:p.Val844AlafsTer?
XM_006710513.1:c.2506_2507insCCTTTGCCCGCATGGCCCCG	XP_006710576.1:p.Val836AlafsTer?
XM_011541128.1:c.2533_2534insCCTTTGCCCGCATGGCCCCG	XP_011539430.1:p.Val845AlafsTer?
XM_011541129.1:c.2341_2342insCCTTTGCCCGCATGGCCCCG	XP_011539431.1:p.Val781AlafsTer?
XM_017000844.1:c.2533_2534insCCTTTGCCCGCATGGCCCCG	XP_016856333.1:p.Val845AlafsTer?
XM_017000845.1:c.2530_2531insCCTTTGCCCGCATGGCCCCG	XP_016856334.1:p.Val844AlafsTer?
XM_017000846.1:c.2506_2507insCCTTTGCCCGCATGGCCCCG	XP_016856335.1:p.Val836AlafsTer?
XM_017000847.1:c.2503_2504insCCTTTGCCCGCATGGCCCCG	XP_016856336.1:p.Val835AlafsTer?
XM_017000848.1:c.2431_2432insCCTTTGCCCGCATGGCCCCG	XP_016856337.1:p.Val811AlafsTer?
XM_017000849.1:c.2416_2417insCCTTTGCCCGCATGGCCCCG	XP_016856338.1:p.Val806AlafsTer?
XM_017000850.1:c.2341_2342insCCTTTGCCCGCATGGCCCCG	XP_016856339.1:p.Val781AlafsTer?
NM_022089.4:c.2548_2549insCCTTTGCCCGCATGGCCCCG MANE Select	NP_071372.1:p.Val850AlafsTer?
NM_001141973.3:c.2533_2534insCCTTTGCCCGCATGGCCCCG	NP_001135445.1:p.Val845AlafsTer?
NM_001141974.3:c.2416_2417insCCTTTGCCCGCATGGCCCCG	NP_001135446.1:p.Val806AlafsTer?