Canonical Allele Identifier: CA2643670866

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986713-TCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986722_16986825del , CM000663.2:g.16986722_16986825del	GRCh38
NC_000001.10:g.17313217_17313320del , CM000663.1:g.17313217_17313320del	GRCh37
NC_000001.9:g.17185804_17185907del	NCBI36
NG_009054.1:g.30112_30215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3223_3236-82del
ENST00000326735.12:c.3223_3236-82del
ENST00000341676.9:c.3091_3103+91del
ENST00000452699.5:c.3208_3221-82del
ENST00000466561.1:n.1097_1200del
ENST00000502418.1:c.811_823+91del
NM_001141973.2:c.3208_3221-82del
NM_001141974.2:c.3091_3103+91del
NM_022089.3:c.3223_3236-82del
XM_005245809.1:c.3223_3235+91del
XM_005245810.1:c.3220_3232+91del
XM_005245811.1:c.3208_3220+91del
XM_005245812.1:c.3196_3208+91del
XM_005245813.1:c.3163_3175+91del
XM_005245815.1:c.3106_3118+91del
XM_006710512.1:c.3205_3217+91del
XM_006710513.1:c.3181_3193+91del
XM_011541128.1:c.3208_3220+91del
XM_011541129.1:c.3016_3028+91del
XM_017000844.1:c.3208_3221-82del
XM_017000845.1:c.3205_3218-82del
XM_017000846.1:c.3181_3194-82del
XM_017000847.1:c.3178_3191-82del
XM_017000848.1:c.3106_3119-82del
XM_017000849.1:c.3091_3104-82del
XM_017000850.1:c.3016_3029-82del
NM_022089.4:c.3223_3236-82del
NM_001141973.3:c.3208_3221-82del
NM_001141974.3:c.3091_3103+91del