Canonical Allele Identifier: CA2643667908

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986132-AGGTGGTGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986140_16986148del , CM000663.2:g.16986140_16986148del	GRCh38
NC_000001.10:g.17312635_17312643del , CM000663.1:g.17312635_17312643del	GRCh37
NC_000001.9:g.17185222_17185230del	NCBI36
NG_009054.1:g.30788_30796del
NG_029688.1:g.446_454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*80_*88del MANE Select	ENSP00000327214.8:n.*80_*88del
ENST00000326735.12:c.*80_*88del	ENSP00000327214.8:n.*80_*88del
ENST00000341676.9:c.3321_3329del	ENSP00000341115.5:p.Pro1108_Pro1110del
ENST00000452699.5:c.*80_*88del	ENSP00000413307.1:n.*80_*88del
ENST00000466561.1:n.1669_1677del
ENST00000502418.1:c.1041_1049del	ENSP00000423065.1:p.Pro348_Pro350del
NM_001141973.2:c.*80_*88del	NP_001135445.1:n.*80_*88del
NM_001141974.2:c.3321_3329del	NP_001135446.1:p.Pro1108_Pro1110del
NM_022089.3:c.*80_*88del	NP_071372.1:n.*80_*88del
XM_005245809.1:c.3453_3461del	XP_005245866.1:p.Pro1152_Pro1154del
XM_005245810.1:c.3450_3458del	XP_005245867.1:p.Pro1151_Pro1153del
XM_005245811.1:c.3438_3446del	XP_005245868.1:p.Pro1147_Pro1149del
XM_005245812.1:c.3426_3434del	XP_005245869.1:p.Pro1143_Pro1145del
XM_005245813.1:c.3393_3401del	XP_005245870.1:p.Pro1132_Pro1134del
XM_005245815.1:c.3336_3344del	XP_005245872.1:p.Pro1113_Pro1115del
XM_006710512.1:c.3435_3443del	XP_006710575.1:p.Pro1146_Pro1148del
XM_006710513.1:c.3411_3419del	XP_006710576.1:p.Pro1138_Pro1140del
XM_011541128.1:c.3438_3446del	XP_011539430.1:p.Pro1147_Pro1149del
XM_011541129.1:c.3246_3254del	XP_011539431.1:p.Pro1083_Pro1085del
XM_017000844.1:c.*80_*88del	XP_016856333.1:n.*80_*88del
XM_017000845.1:c.*80_*88del	XP_016856334.1:n.*80_*88del
XM_017000846.1:c.*80_*88del	XP_016856335.1:n.*80_*88del
XM_017000847.1:c.*80_*88del	XP_016856336.1:n.*80_*88del
XM_017000848.1:c.*80_*88del	XP_016856337.1:n.*80_*88del
XM_017000849.1:c.*80_*88del	XP_016856338.1:n.*80_*88del
XM_017000850.1:c.*80_*88del	XP_016856339.1:n.*80_*88del
NM_022089.4:c.*80_*88del MANE Select	NP_071372.1:n.*80_*88del
NM_001141973.3:c.*80_*88del	NP_001135445.1:n.*80_*88del
NM_001141974.3:c.3321_3329del	NP_001135446.1:p.Pro1108_Pro1110del