Canonical Allele Identifier: CA2643668286

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986234-C-CCGGCGGGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986241_16986250dup , CM000663.2:g.16986241_16986250dup	GRCh38
NC_000001.10:g.17312736_17312745dup , CM000663.1:g.17312736_17312745dup	GRCh37
NC_000001.9:g.17185323_17185332dup	NCBI36
NG_009054.1:g.30685_30694dup
NG_029688.1:g.343_352dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3520_3529dup MANE Select	ENSP00000327214.8:p.Gly1177AlafsTer?
ENST00000326735.12:c.3520_3529dup	ENSP00000327214.8:p.Gly1177AlafsTer?
ENST00000341676.9:c.3218_3227dup	ENSP00000341115.5:p.Pro1077CysfsTer6
ENST00000452699.5:c.3505_3514dup	ENSP00000413307.1:p.Gly1172AlafsTer?
ENST00000466561.1:n.1566_1575dup
ENST00000502418.1:c.938_947dup	ENSP00000423065.1:p.Pro317CysfsTer6
NM_001141973.2:c.3505_3514dup	NP_001135445.1:p.Gly1172AlafsTer?
NM_001141974.2:c.3218_3227dup	NP_001135446.1:p.Pro1077CysfsTer6
NM_022089.3:c.3520_3529dup	NP_071372.1:p.Gly1177AlafsTer?
XM_005245809.1:c.3350_3359dup	XP_005245866.1:p.Pro1121CysfsTer6
XM_005245810.1:c.3347_3356dup	XP_005245867.1:p.Pro1120CysfsTer6
XM_005245811.1:c.3335_3344dup	XP_005245868.1:p.Pro1116CysfsTer6
XM_005245812.1:c.3323_3332dup	XP_005245869.1:p.Pro1112CysfsTer6
XM_005245813.1:c.3290_3299dup	XP_005245870.1:p.Pro1101CysfsTer6
XM_005245815.1:c.3233_3242dup	XP_005245872.1:p.Pro1082CysfsTer6
XM_006710512.1:c.3332_3341dup	XP_006710575.1:p.Pro1115CysfsTer6
XM_006710513.1:c.3308_3317dup	XP_006710576.1:p.Pro1107CysfsTer6
XM_011541128.1:c.3335_3344dup	XP_011539430.1:p.Pro1116CysfsTer6
XM_011541129.1:c.3143_3152dup	XP_011539431.1:p.Pro1052CysfsTer6
XM_017000844.1:c.3505_3514dup	XP_016856333.1:p.Gly1172AlafsTer?
XM_017000845.1:c.3502_3511dup	XP_016856334.1:p.Gly1171AlafsTer?
XM_017000846.1:c.3478_3487dup	XP_016856335.1:p.Gly1163AlafsTer?
XM_017000847.1:c.3475_3484dup	XP_016856336.1:p.Gly1162AlafsTer?
XM_017000848.1:c.3403_3412dup	XP_016856337.1:p.Gly1138AlafsTer?
XM_017000849.1:c.3388_3397dup	XP_016856338.1:p.Gly1133AlafsTer?
XM_017000850.1:c.3313_3322dup	XP_016856339.1:p.Gly1108AlafsTer?
NM_022089.4:c.3520_3529dup MANE Select	NP_071372.1:p.Gly1177AlafsTer?
NM_001141973.3:c.3505_3514dup	NP_001135445.1:p.Gly1172AlafsTer?
NM_001141974.3:c.3218_3227dup	NP_001135446.1:p.Pro1077CysfsTer6