Canonical Allele Identifier: CA999085422

Gene: ATP13A2

Linked Data

• gnomAD v3: 1-16986836-CCCCTTG-C
• gnomAD v4: 1-16986836-CCCCTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986837_16986842del , CM000663.2:g.16986837_16986842del	GRCh38
NC_000001.10:g.17313332_17313337del , CM000663.1:g.17313332_17313337del	GRCh37
NC_000001.9:g.17185919_17185924del	NCBI36
NG_009054.1:g.30087_30092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3198_3203del MANE Select	ENSP00000327214.8:p.Lys1067_Gly1068del
ENST00000326735.12:c.3198_3203del	ENSP00000327214.8:p.Lys1067_Gly1068del
ENST00000341676.9:c.3066_3071del	ENSP00000341115.5:p.Lys1023_Gly1024del
ENST00000452699.5:c.3183_3188del	ENSP00000413307.1:p.Lys1062_Gly1063del
ENST00000466561.1:n.1072_1077del
ENST00000502418.1:c.786_791del	ENSP00000423065.1:p.Lys263_Gly264del
NM_001141973.2:c.3183_3188del	NP_001135445.1:p.Lys1062_Gly1063del
NM_001141974.2:c.3066_3071del	NP_001135446.1:p.Lys1023_Gly1024del
NM_022089.3:c.3198_3203del	NP_071372.1:p.Lys1067_Gly1068del
XM_005245809.1:c.3198_3203del	XP_005245866.1:p.Lys1067_Gly1068del
XM_005245810.1:c.3195_3200del	XP_005245867.1:p.Lys1066_Gly1067del
XM_005245811.1:c.3183_3188del	XP_005245868.1:p.Lys1062_Gly1063del
XM_005245812.1:c.3171_3176del	XP_005245869.1:p.Lys1058_Gly1059del
XM_005245813.1:c.3138_3143del	XP_005245870.1:p.Lys1047_Gly1048del
XM_005245815.1:c.3081_3086del	XP_005245872.1:p.Lys1028_Gly1029del
XM_006710512.1:c.3180_3185del	XP_006710575.1:p.Lys1061_Gly1062del
XM_006710513.1:c.3156_3161del	XP_006710576.1:p.Lys1053_Gly1054del
XM_011541128.1:c.3183_3188del	XP_011539430.1:p.Lys1062_Gly1063del
XM_011541129.1:c.2991_2996del	XP_011539431.1:p.Lys998_Gly999del
XM_017000844.1:c.3183_3188del	XP_016856333.1:p.Lys1062_Gly1063del
XM_017000845.1:c.3180_3185del	XP_016856334.1:p.Lys1061_Gly1062del
XM_017000846.1:c.3156_3161del	XP_016856335.1:p.Lys1053_Gly1054del
XM_017000847.1:c.3153_3158del	XP_016856336.1:p.Lys1052_Gly1053del
XM_017000848.1:c.3081_3086del	XP_016856337.1:p.Lys1028_Gly1029del
XM_017000849.1:c.3066_3071del	XP_016856338.1:p.Lys1023_Gly1024del
XM_017000850.1:c.2991_2996del	XP_016856339.1:p.Lys998_Gly999del
NM_022089.4:c.3198_3203del MANE Select	NP_071372.1:p.Lys1067_Gly1068del
NM_001141973.3:c.3183_3188del	NP_001135445.1:p.Lys1062_Gly1063del
NM_001141974.3:c.3066_3071del	NP_001135446.1:p.Lys1023_Gly1024del