Canonical Allele Identifier: CA1143366426

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986751_16986760delinsCCAGGGCTCC , CM000663.2:g.16986751_16986760delinsCCAGGGCTCC	GRCh38
NC_000001.10:g.17313246_17313255delinsCCAGGGCTCC , CM000663.1:g.17313246_17313255delinsCCAGGGCTCC	GRCh37
NC_000001.9:g.17185833_17185842delinsCCAGGGCTCC	NCBI36
NG_009054.1:g.30169_30178delinsGGAGCCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3235+45_3235+54delinsGGAGCCCTGG MANE Select	ENSP00000327214.8:n.3235+45_3235+54delinsGGAGCCCTGG
ENST00000326735.12:c.3235+45_3235+54delinsGGAGCCCTGG	ENSP00000327214.8:n.3235+45_3235+54delinsGGAGCCCTGG
ENST00000341676.9:c.3103+45_3103+54delinsGGAGCCCTGG	ENSP00000341115.5:n.3103+45_3103+54delinsGGAGCCCTGG
ENST00000452699.5:c.3220+45_3220+54delinsGGAGCCCTGG	ENSP00000413307.1:n.3220+45_3220+54delinsGGAGCCCTGG
ENST00000466561.1:n.1154_1163delinsGGAGCCCTGG
ENST00000502418.1:c.823+45_823+54delinsGGAGCCCTGG	ENSP00000423065.1:n.823+45_823+54delinsGGAGCCCTGG
NM_001141973.2:c.3220+45_3220+54delinsGGAGCCCTGG	NP_001135445.1:n.3220+45_3220+54delinsGGAGCCCTGG
NM_001141974.2:c.3103+45_3103+54delinsGGAGCCCTGG	NP_001135446.1:n.3103+45_3103+54delinsGGAGCCCTGG
NM_022089.3:c.3235+45_3235+54delinsGGAGCCCTGG	NP_071372.1:n.3235+45_3235+54delinsGGAGCCCTGG
XM_005245809.1:c.3235+45_3235+54delinsGGAGCCCTGG	XP_005245866.1:n.3235+45_3235+54delinsGGAGCCCTGG
XM_005245810.1:c.3232+45_3232+54delinsGGAGCCCTGG	XP_005245867.1:n.3232+45_3232+54delinsGGAGCCCTGG
XM_005245811.1:c.3220+45_3220+54delinsGGAGCCCTGG	XP_005245868.1:n.3220+45_3220+54delinsGGAGCCCTGG
XM_005245812.1:c.3208+45_3208+54delinsGGAGCCCTGG	XP_005245869.1:n.3208+45_3208+54delinsGGAGCCCTGG
XM_005245813.1:c.3175+45_3175+54delinsGGAGCCCTGG	XP_005245870.1:n.3175+45_3175+54delinsGGAGCCCTGG
XM_005245815.1:c.3118+45_3118+54delinsGGAGCCCTGG	XP_005245872.1:n.3118+45_3118+54delinsGGAGCCCTGG
XM_006710512.1:c.3217+45_3217+54delinsGGAGCCCTGG	XP_006710575.1:n.3217+45_3217+54delinsGGAGCCCTGG
XM_006710513.1:c.3193+45_3193+54delinsGGAGCCCTGG	XP_006710576.1:n.3193+45_3193+54delinsGGAGCCCTGG
XM_011541128.1:c.3220+45_3220+54delinsGGAGCCCTGG	XP_011539430.1:n.3220+45_3220+54delinsGGAGCCCTGG
XM_011541129.1:c.3028+45_3028+54delinsGGAGCCCTGG	XP_011539431.1:n.3028+45_3028+54delinsGGAGCCCTGG
XM_017000844.1:c.3220+45_3220+54delinsGGAGCCCTGG	XP_016856333.1:n.3220+45_3220+54delinsGGAGCCCTGG
XM_017000845.1:c.3217+45_3217+54delinsGGAGCCCTGG	XP_016856334.1:n.3217+45_3217+54delinsGGAGCCCTGG
XM_017000846.1:c.3193+45_3193+54delinsGGAGCCCTGG	XP_016856335.1:n.3193+45_3193+54delinsGGAGCCCTGG
XM_017000847.1:c.3190+45_3190+54delinsGGAGCCCTGG	XP_016856336.1:n.3190+45_3190+54delinsGGAGCCCTGG
XM_017000848.1:c.3118+45_3118+54delinsGGAGCCCTGG	XP_016856337.1:n.3118+45_3118+54delinsGGAGCCCTGG
XM_017000849.1:c.3103+45_3103+54delinsGGAGCCCTGG	XP_016856338.1:n.3103+45_3103+54delinsGGAGCCCTGG
XM_017000850.1:c.3028+45_3028+54delinsGGAGCCCTGG	XP_016856339.1:n.3028+45_3028+54delinsGGAGCCCTGG
NM_022089.4:c.3235+45_3235+54delinsGGAGCCCTGG MANE Select	NP_071372.1:n.3235+45_3235+54delinsGGAGCCCTGG
NM_001141973.3:c.3220+45_3220+54delinsGGAGCCCTGG	NP_001135445.1:n.3220+45_3220+54delinsGGAGCCCTGG
NM_001141974.3:c.3103+45_3103+54delinsGGAGCCCTGG	NP_001135446.1:n.3103+45_3103+54delinsGGAGCCCTGG