Canonical Allele Identifier: CA915941147

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 660925
• ClinVar RCV Id: RCV000818226
• dbSNP Id: rs1570759415
• gnomAD v4: 1-16986881-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986887_16986888del , CM000663.2:g.16986887_16986888del	GRCh38
NC_000001.10:g.17313382_17313383del , CM000663.1:g.17313382_17313383del	GRCh37
NC_000001.9:g.17185969_17185970del	NCBI36
NG_009054.1:g.30046_30047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3157_3158del MANE Select	ENSP00000327214.8:p.Leu1053ValfsTer?
ENST00000326735.12:c.3157_3158del	ENSP00000327214.8:p.Leu1053ValfsTer?
ENST00000341676.9:c.3025_3026del	ENSP00000341115.5:p.Leu1009ValfsTer26
ENST00000452699.5:c.3142_3143del	ENSP00000413307.1:p.Leu1048ValfsTer?
ENST00000466561.1:n.1031_1032del
ENST00000502418.1:c.745_746del	ENSP00000423065.1:p.Leu249ValfsTer26
NM_001141973.2:c.3142_3143del	NP_001135445.1:p.Leu1048ValfsTer?
NM_001141974.2:c.3025_3026del	NP_001135446.1:p.Leu1009ValfsTer26
NM_022089.3:c.3157_3158del	NP_071372.1:p.Leu1053ValfsTer?
XM_005245809.1:c.3157_3158del	XP_005245866.1:p.Leu1053ValfsTer26
XM_005245810.1:c.3154_3155del	XP_005245867.1:p.Leu1052ValfsTer26
XM_005245811.1:c.3142_3143del	XP_005245868.1:p.Leu1048ValfsTer26
XM_005245812.1:c.3130_3131del	XP_005245869.1:p.Leu1044ValfsTer26
XM_005245813.1:c.3097_3098del	XP_005245870.1:p.Leu1033ValfsTer26
XM_005245815.1:c.3040_3041del	XP_005245872.1:p.Leu1014ValfsTer26
XM_006710512.1:c.3139_3140del	XP_006710575.1:p.Leu1047ValfsTer26
XM_006710513.1:c.3115_3116del	XP_006710576.1:p.Leu1039ValfsTer26
XM_011541128.1:c.3142_3143del	XP_011539430.1:p.Leu1048ValfsTer26
XM_011541129.1:c.2950_2951del	XP_011539431.1:p.Leu984ValfsTer26
XM_017000844.1:c.3142_3143del	XP_016856333.1:p.Leu1048ValfsTer?
XM_017000845.1:c.3139_3140del	XP_016856334.1:p.Leu1047ValfsTer?
XM_017000846.1:c.3115_3116del	XP_016856335.1:p.Leu1039ValfsTer?
XM_017000847.1:c.3112_3113del	XP_016856336.1:p.Leu1038ValfsTer?
XM_017000848.1:c.3040_3041del	XP_016856337.1:p.Leu1014ValfsTer?
XM_017000849.1:c.3025_3026del	XP_016856338.1:p.Leu1009ValfsTer?
XM_017000850.1:c.2950_2951del	XP_016856339.1:p.Leu984ValfsTer?
NM_022089.4:c.3157_3158del MANE Select	NP_071372.1:p.Leu1053ValfsTer?
NM_001141973.3:c.3142_3143del	NP_001135445.1:p.Leu1048ValfsTer?
NM_001141974.3:c.3025_3026del	NP_001135446.1:p.Leu1009ValfsTer26