Canonical Allele Identifier: CA1156048733

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986055_16986057delinsCAG , CM000663.2:g.16986055_16986057delinsCAG	GRCh38
NC_000001.10:g.17312550_17312552delinsCAG , CM000663.1:g.17312550_17312552delinsCAG	GRCh37
NC_000001.9:g.17185137_17185139delinsCAG	NCBI36
NG_009054.1:g.30872_30874delinsCTG
NG_029688.1:g.530_532delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*164_*166delinsCTG MANE Select	ENSP00000327214.8:n.*164_*166delinsCTG
ENST00000326735.12:c.*164_*166delinsCTG	ENSP00000327214.8:n.*164_*166delinsCTG
ENST00000341676.9:c.3405_3407delinsCTG	ENSP00000341115.5:p.Tyr1135=
ENST00000452699.5:c.*164_*166delinsCTG	ENSP00000413307.1:n.*164_*166delinsCTG
ENST00000466561.1:n.1753_1755delinsCTG
ENST00000502418.1:c.1125_1127delinsCTG	ENSP00000423065.1:p.Tyr375=
NM_001141973.2:c.*164_*166delinsCTG	NP_001135445.1:n.*164_*166delinsCTG
NM_001141974.2:c.3405_3407delinsCTG	NP_001135446.1:p.Tyr1135=
NM_022089.3:c.*164_*166delinsCTG	NP_071372.1:n.*164_*166delinsCTG
XM_005245809.1:c.3537_3539delinsCTG	XP_005245866.1:p.Tyr1179=
XM_005245810.1:c.3534_3536delinsCTG	XP_005245867.1:p.Tyr1178=
XM_005245811.1:c.3522_3524delinsCTG	XP_005245868.1:p.Tyr1174=
XM_005245812.1:c.3510_3512delinsCTG	XP_005245869.1:p.Tyr1170=
XM_005245813.1:c.3477_3479delinsCTG	XP_005245870.1:p.Tyr1159=
XM_005245815.1:c.3420_3422delinsCTG	XP_005245872.1:p.Tyr1140=
XM_006710512.1:c.3519_3521delinsCTG	XP_006710575.1:p.Tyr1173=
XM_006710513.1:c.3495_3497delinsCTG	XP_006710576.1:p.Tyr1165=
XM_011541128.1:c.3522_3524delinsCTG	XP_011539430.1:p.Tyr1174=
XM_011541129.1:c.3330_3332delinsCTG	XP_011539431.1:p.Tyr1110=
XM_017000844.1:c.*164_*166delinsCTG	XP_016856333.1:n.*164_*166delinsCTG
XM_017000845.1:c.*164_*166delinsCTG	XP_016856334.1:n.*164_*166delinsCTG
XM_017000846.1:c.*164_*166delinsCTG	XP_016856335.1:n.*164_*166delinsCTG
XM_017000847.1:c.*164_*166delinsCTG	XP_016856336.1:n.*164_*166delinsCTG
XM_017000848.1:c.*164_*166delinsCTG	XP_016856337.1:n.*164_*166delinsCTG
XM_017000849.1:c.*164_*166delinsCTG	XP_016856338.1:n.*164_*166delinsCTG
XM_017000850.1:c.*164_*166delinsCTG	XP_016856339.1:n.*164_*166delinsCTG
NM_022089.4:c.*164_*166delinsCTG MANE Select	NP_071372.1:n.*164_*166delinsCTG
NM_001141973.3:c.*164_*166delinsCTG	NP_001135445.1:n.*164_*166delinsCTG
NM_001141974.3:c.3405_3407delinsCTG	NP_001135446.1:p.Tyr1135=