Canonical Allele Identifier: CA999063667

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2077129195
• gnomAD v3: 1-16996466-CTCA-C
• gnomAD v4: 1-16996466-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996467_16996469del , CM000663.2:g.16996467_16996469del	GRCh38
NC_000001.10:g.17322962_17322964del , CM000663.1:g.17322962_17322964del	GRCh37
NC_000001.9:g.17195549_17195551del	NCBI36
NG_009054.1:g.20460_20462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1223_1225del MANE Select	ENSP00000327214.8:p.Val408_Ser409delinsGly
ENST00000326735.12:c.1223_1225del	ENSP00000327214.8:p.Val408_Ser409delinsGly
ENST00000341676.9:c.1208_1210del	ENSP00000341115.5:p.Val403_Ser404delinsGly
ENST00000452699.5:c.1208_1210del	ENSP00000413307.1:p.Val403_Ser404delinsGly
ENST00000463860.5:n.831_833del
ENST00000502860.1:n.335-169_335-167del
ENST00000506174.5:c.365_367del	ENSP00000424393.1:p.Val122_Ser123delinsGly
ENST00000509392.1:n.226_228del
ENST00000617114.4:c.335-169_335-167del	ENSP00000478781.1:n.335-169_335-167del
NM_001141973.2:c.1208_1210del	NP_001135445.1:p.Val403_Ser404delinsGly
NM_001141974.2:c.1208_1210del	NP_001135446.1:p.Val403_Ser404delinsGly
NM_022089.3:c.1223_1225del	NP_071372.1:p.Val408_Ser409delinsGly
XM_005245809.1:c.1223_1225del	XP_005245866.1:p.Val408_Ser409delinsGly
XM_005245810.1:c.1220_1222del	XP_005245867.1:p.Val407_Ser408delinsGly
XM_005245811.1:c.1208_1210del	XP_005245868.1:p.Val403_Ser404delinsGly
XM_005245812.1:c.1196_1198del	XP_005245869.1:p.Val399_Ser400delinsGly
XM_005245813.1:c.1223_1225del	XP_005245870.1:p.Val408_Ser409delinsGly
XM_005245815.1:c.1223_1225del	XP_005245872.1:p.Val408_Ser409delinsGly
XM_006710512.1:c.1205_1207del	XP_006710575.1:p.Val402_Ser403delinsGly
XM_006710513.1:c.1181_1183del	XP_006710576.1:p.Val394_Ser395delinsGly
XM_011541128.1:c.1223_1225del	XP_011539430.1:p.Val408_Ser409delinsGly
XM_011541129.1:c.1223_1225del	XP_011539431.1:p.Val408_Ser409delinsGly
XM_017000844.1:c.1223_1225del	XP_016856333.1:p.Val408_Ser409delinsGly
XM_017000845.1:c.1205_1207del	XP_016856334.1:p.Val402_Ser403delinsGly
XM_017000846.1:c.1181_1183del	XP_016856335.1:p.Val394_Ser395delinsGly
XM_017000847.1:c.1193_1195del	XP_016856336.1:p.Val398_Ser399delinsGly
XM_017000848.1:c.1223_1225del	XP_016856337.1:p.Val408_Ser409delinsGly
XM_017000849.1:c.1208_1210del	XP_016856338.1:p.Val403_Ser404delinsGly
XM_017000850.1:c.1223_1225del	XP_016856339.1:p.Val408_Ser409delinsGly
NM_022089.4:c.1223_1225del MANE Select	NP_071372.1:p.Val408_Ser409delinsGly
NM_001141973.3:c.1208_1210del	NP_001135445.1:p.Val403_Ser404delinsGly
NM_001141974.3:c.1208_1210del	NP_001135446.1:p.Val403_Ser404delinsGly