Canonical Allele Identifier: CA2643673780

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16995980-T-TCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995981_16995982dup , CM000663.2:g.16995981_16995982dup	GRCh38
NC_000001.10:g.17322476_17322477dup , CM000663.1:g.17322476_17322477dup	GRCh37
NC_000001.9:g.17195063_17195064dup	NCBI36
NG_009054.1:g.20947_20948dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1536_1537dup MANE Select	ENSP00000327214.8:p.Asp513AlafsTer12
ENST00000326735.12:c.1536_1537dup	ENSP00000327214.8:p.Asp513AlafsTer12
ENST00000341676.9:c.1521_1522dup	ENSP00000341115.5:p.Asp508AlafsTer12
ENST00000452699.5:c.1521_1522dup	ENSP00000413307.1:p.Asp508AlafsTer12
ENST00000463860.5:n.1144_1145dup
ENST00000502860.1:n.564_565dup
ENST00000503552.1:c.213_214dup	ENSP00000421126.1:p.Asp72AlafsTer22
ENST00000617114.4:c.564_565dup	ENSP00000478781.1:p.Asp189AlafsTer22
NM_001141973.2:c.1521_1522dup	NP_001135445.1:p.Asp508AlafsTer12
NM_001141974.2:c.1521_1522dup	NP_001135446.1:p.Asp508AlafsTer12
NM_022089.3:c.1536_1537dup	NP_071372.1:p.Asp513AlafsTer12
XM_005245809.1:c.1536_1537dup	XP_005245866.1:p.Asp513AlafsTer12
XM_005245810.1:c.1533_1534dup	XP_005245867.1:p.Asp512AlafsTer12
XM_005245811.1:c.1521_1522dup	XP_005245868.1:p.Asp508AlafsTer12
XM_005245812.1:c.1509_1510dup	XP_005245869.1:p.Asp504AlafsTer12
XM_005245813.1:c.1536_1537dup	XP_005245870.1:p.Asp513AlafsTer12
XM_005245815.1:c.1536_1537dup	XP_005245872.1:p.Asp513AlafsTer12
XM_006710512.1:c.1518_1519dup	XP_006710575.1:p.Asp507AlafsTer12
XM_006710513.1:c.1494_1495dup	XP_006710576.1:p.Asp499AlafsTer12
XM_011541128.1:c.1527+9_1527+10dup	XP_011539430.1:n.1527+9_1527+10dup
XM_011541129.1:c.1536_1537dup	XP_011539431.1:p.Asp513AlafsTer22
XM_017000844.1:c.1527+9_1527+10dup	XP_016856333.1:n.1527+9_1527+10dup
XM_017000845.1:c.1518_1519dup	XP_016856334.1:p.Asp507AlafsTer12
XM_017000846.1:c.1494_1495dup	XP_016856335.1:p.Asp499AlafsTer12
XM_017000847.1:c.1497+9_1497+10dup	XP_016856336.1:n.1497+9_1497+10dup
XM_017000848.1:c.1536_1537dup	XP_016856337.1:p.Asp513AlafsTer12
XM_017000849.1:c.1521_1522dup	XP_016856338.1:p.Asp508AlafsTer12
XM_017000850.1:c.1536_1537dup	XP_016856339.1:p.Asp513AlafsTer22
NM_022089.4:c.1536_1537dup MANE Select	NP_071372.1:p.Asp513AlafsTer12
NM_001141973.3:c.1521_1522dup	NP_001135445.1:p.Asp508AlafsTer12
NM_001141974.3:c.1521_1522dup	NP_001135446.1:p.Asp508AlafsTer12