Canonical Allele Identifier: CA521449721

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1557692244
• gnomAD v2: 1-17322603-TGGCACCACCACGGTCACCAGGTCGAGAGCCCGGATTACAATCTCATTCAGAGGCACCTGGCAGGG-T
• gnomAD v4: 1-16996108-TGGCACCACCACGGTCACCAGGTCGAGAGCCCGGATTACAATCTCATTCAGAGGCACCTGGCAGGG-T
• MyVariant Identifiers: chr1:g.17322604_17322668del (hg19) ; chr1:g.16996109_16996173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996116_16996180del , CM000663.2:g.16996116_16996180del	GRCh38
NC_000001.10:g.17322611_17322675del , CM000663.1:g.17322611_17322675del	GRCh37
NC_000001.9:g.17195198_17195262del	NCBI36
NG_009054.1:g.20756_20820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1354-9_1409del
ENST00000326735.12:c.1354-9_1409del
ENST00000341676.9:c.1339-9_1394del
ENST00000452699.5:c.1339-9_1394del
ENST00000463860.5:n.962-9_1017del
ENST00000502860.1:n.382-9_437del
ENST00000503552.1:c.31-9_86del
ENST00000506174.5:c.496-9_551del
ENST00000509392.1:n.442-9_497del
ENST00000617114.4:c.382-9_437del
NM_001141973.2:c.1339-9_1394del
NM_001141974.2:c.1339-9_1394del
NM_022089.3:c.1354-9_1409del
XM_005245809.1:c.1354-9_1409del
XM_005245810.1:c.1351-9_1406del
XM_005245811.1:c.1339-9_1394del
XM_005245812.1:c.1327-9_1382del
XM_005245813.1:c.1354-9_1409del
XM_005245815.1:c.1354-9_1409del
XM_006710512.1:c.1336-9_1391del
XM_006710513.1:c.1312-9_1367del
XM_011541128.1:c.1354-9_1409del
XM_011541129.1:c.1354-9_1409del
XM_017000844.1:c.1354-9_1409del
XM_017000845.1:c.1336-9_1391del
XM_017000846.1:c.1312-9_1367del
XM_017000847.1:c.1324-9_1379del
XM_017000848.1:c.1354-9_1409del
XM_017000849.1:c.1339-9_1394del
XM_017000850.1:c.1354-9_1409del
NM_022089.4:c.1354-9_1409del
NM_001141973.3:c.1339-9_1394del
NM_001141974.3:c.1339-9_1394del