Canonical Allele Identifier: CA636463

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1481567
• ClinVar RCV Id: RCV002022324 ; RCV003155453 ; RCV004042456
• dbSNP Id: rs779637529
• ExAC: 1:17312742 G / GCGGCCAGGGCTGCT
• gnomAD v2: 1-17312742-G-GCGGCCAGGGCTGCT
• gnomAD v3: 1-16986247-G-GCGGCCAGGGCTGCT
• gnomAD v4: 1-16986247-G-GCGGCCAGGGCTGCT
• MyVariant Identifiers: chr1:g.17312742_17312743insCGGCCAGGGCTGCT (hg19) ; chr1:g.16986247_16986248insCGGCCAGGGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986255_16986268dup , CM000663.2:g.16986255_16986268dup	GRCh38
NC_000001.10:g.17312750_17312763dup , CM000663.1:g.17312750_17312763dup	GRCh37
NC_000001.9:g.17185337_17185350dup	NCBI36
NG_009054.1:g.30668_30681dup
NG_029688.1:g.326_339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3503_3516dup MANE Select	ENSP00000327214.8:p.Pro1173SerfsTer12
ENST00000326735.12:c.3503_3516dup	ENSP00000327214.8:p.Pro1173SerfsTer12
ENST00000341676.9:c.3201_3214dup	ENSP00000341115.5:p.Ala1072GlufsTer14
ENST00000452699.5:c.3488_3501dup	ENSP00000413307.1:p.Pro1168SerfsTer12
ENST00000466561.1:n.1549_1562dup
ENST00000502418.1:c.921_934dup	ENSP00000423065.1:p.Ala312GlufsTer14
NM_001141973.2:c.3488_3501dup	NP_001135445.1:p.Pro1168SerfsTer12
NM_001141974.2:c.3201_3214dup	NP_001135446.1:p.Ala1072GlufsTer14
NM_022089.3:c.3503_3516dup	NP_071372.1:p.Pro1173SerfsTer12
XM_005245809.1:c.3333_3346dup	XP_005245866.1:p.Ala1116GlufsTer14
XM_005245810.1:c.3330_3343dup	XP_005245867.1:p.Ala1115GlufsTer14
XM_005245811.1:c.3318_3331dup	XP_005245868.1:p.Ala1111GlufsTer14
XM_005245812.1:c.3306_3319dup	XP_005245869.1:p.Ala1107GlufsTer14
XM_005245813.1:c.3273_3286dup	XP_005245870.1:p.Ala1096GlufsTer14
XM_005245815.1:c.3216_3229dup	XP_005245872.1:p.Ala1077GlufsTer14
XM_006710512.1:c.3315_3328dup	XP_006710575.1:p.Ala1110GlufsTer14
XM_006710513.1:c.3291_3304dup	XP_006710576.1:p.Ala1102GlufsTer14
XM_011541128.1:c.3318_3331dup	XP_011539430.1:p.Ala1111GlufsTer14
XM_011541129.1:c.3126_3139dup	XP_011539431.1:p.Ala1047GlufsTer14
XM_017000844.1:c.3488_3501dup	XP_016856333.1:p.Pro1168SerfsTer12
XM_017000845.1:c.3485_3498dup	XP_016856334.1:p.Pro1167SerfsTer12
XM_017000846.1:c.3461_3474dup	XP_016856335.1:p.Pro1159SerfsTer12
XM_017000847.1:c.3458_3471dup	XP_016856336.1:p.Pro1158SerfsTer12
XM_017000848.1:c.3386_3399dup	XP_016856337.1:p.Pro1134SerfsTer12
XM_017000849.1:c.3371_3384dup	XP_016856338.1:p.Pro1129SerfsTer12
XM_017000850.1:c.3296_3309dup	XP_016856339.1:p.Pro1104SerfsTer12
NM_022089.4:c.3503_3516dup MANE Select	NP_071372.1:p.Pro1173SerfsTer12
NM_001141973.3:c.3488_3501dup	NP_001135445.1:p.Pro1168SerfsTer12
NM_001141974.3:c.3201_3214dup	NP_001135446.1:p.Ala1072GlufsTer14