Canonical Allele Identifier: CA637269

Gene: ATP13A2

Linked Data

• ExAC: 1:17322795 GCTGTGGGGACAGCGAAGGACTGAGTGGGATTTGGGACCCAGGTGGGGGGGGCTATGGGCAGAGGAGGGTGCAGGGGGCCACTCAC / G
• gnomAD v2: 1-17322795-GCTGTGGGGACAGCGAAGGACTGAGTGGGATTTGGGACCCAGGTGGGGGGGGCTATGGGCAGAGGAGGGTGCAGGGGGCCACTCAC-G
• gnomAD v4: 1-16996300-GCTGTGGGGACAGCGAAGGACTGAGTGGGATTTGGGACCCAGGTGGGGGGGGCTATGGGCAGAGGAGGGTGCAGGGGGCCACTCAC-G
• MyVariant Identifiers: chr1:g.17322796_17322880del (hg19) ; chr1:g.16996301_16996385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996302_16996386del , CM000663.2:g.16996302_16996386del	GRCh38
NC_000001.10:g.17322797_17322881del , CM000663.1:g.17322797_17322881del	GRCh37
NC_000001.9:g.17195384_17195468del	NCBI36
NG_009054.1:g.20544_20628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1306+1_1307-1del
ENST00000326735.12:c.1306+1_1307-1del
ENST00000341676.9:c.1291+1_1292-1del
ENST00000452699.5:c.1291+1_1292-1del
ENST00000463860.5:n.914+1_915-1del
ENST00000502860.1:n.335-85_335-1del
ENST00000506174.5:c.448+1_449-1del
ENST00000509392.1:n.310_394del
ENST00000617114.4:c.335-85_335-1del	ENSP00000478781.1:n.335-85_335-1del
NM_001141973.2:c.1291+1_1292-1del
NM_001141974.2:c.1291+1_1292-1del
NM_022089.3:c.1306+1_1307-1del
XM_005245809.1:c.1306+1_1307-1del
XM_005245810.1:c.1303+1_1304-1del
XM_005245811.1:c.1291+1_1292-1del
XM_005245812.1:c.1279+1_1280-1del
XM_005245813.1:c.1306+1_1307-1del
XM_005245815.1:c.1306+1_1307-1del
XM_006710512.1:c.1288+1_1289-1del
XM_006710513.1:c.1264+1_1265-1del
XM_011541128.1:c.1306+1_1307-1del
XM_011541129.1:c.1306+1_1307-1del
XM_017000844.1:c.1306+1_1307-1del
XM_017000845.1:c.1288+1_1289-1del
XM_017000846.1:c.1264+1_1265-1del
XM_017000847.1:c.1276+1_1277-1del
XM_017000848.1:c.1306+1_1307-1del
XM_017000849.1:c.1291+1_1292-1del
XM_017000850.1:c.1306+1_1307-1del
NM_022089.4:c.1306+1_1307-1del
NM_001141973.3:c.1291+1_1292-1del
NM_001141974.3:c.1291+1_1292-1del