Canonical Allele Identifier: CA1156048687

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986041_16986042delinsTC , CM000663.2:g.16986041_16986042delinsTC	GRCh38
NC_000001.10:g.17312536_17312537delinsTC , CM000663.1:g.17312536_17312537delinsTC	GRCh37
NC_000001.9:g.17185123_17185124delinsTC	NCBI36
NG_009054.1:g.30887_30888delinsGA
NG_029688.1:g.545_546delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*179_*180delinsGA MANE Select	ENSP00000327214.8:n.*179_*180delinsGA
ENST00000326735.12:c.*179_*180delinsGA	ENSP00000327214.8:n.*179_*180delinsGA
ENST00000341676.9:c.3420_3421delinsGA	ENSP00000341115.5:p.Trp1140=
ENST00000452699.5:c.*179_*180delinsGA	ENSP00000413307.1:n.*179_*180delinsGA
ENST00000466561.1:n.1768_1769delinsGA
ENST00000502418.1:c.1140_1141delinsGA	ENSP00000423065.1:p.Trp380=
NM_001141973.2:c.*179_*180delinsGA	NP_001135445.1:n.*179_*180delinsGA
NM_001141974.2:c.3420_3421delinsGA	NP_001135446.1:p.Trp1140=
NM_022089.3:c.*179_*180delinsGA	NP_071372.1:n.*179_*180delinsGA
XM_005245809.1:c.3552_3553delinsGA	XP_005245866.1:p.Trp1184=
XM_005245810.1:c.3549_3550delinsGA	XP_005245867.1:p.Trp1183=
XM_005245811.1:c.3537_3538delinsGA	XP_005245868.1:p.Trp1179=
XM_005245812.1:c.3525_3526delinsGA	XP_005245869.1:p.Trp1175=
XM_005245813.1:c.3492_3493delinsGA	XP_005245870.1:p.Trp1164=
XM_005245815.1:c.3435_3436delinsGA	XP_005245872.1:p.Trp1145=
XM_006710512.1:c.3534_3535delinsGA	XP_006710575.1:p.Trp1178=
XM_006710513.1:c.3510_3511delinsGA	XP_006710576.1:p.Trp1170=
XM_011541128.1:c.3537_3538delinsGA	XP_011539430.1:p.Trp1179=
XM_011541129.1:c.3345_3346delinsGA	XP_011539431.1:p.Trp1115=
XM_017000844.1:c.*179_*180delinsGA	XP_016856333.1:n.*179_*180delinsGA
XM_017000845.1:c.*179_*180delinsGA	XP_016856334.1:n.*179_*180delinsGA
XM_017000846.1:c.*179_*180delinsGA	XP_016856335.1:n.*179_*180delinsGA
XM_017000847.1:c.*179_*180delinsGA	XP_016856336.1:n.*179_*180delinsGA
XM_017000848.1:c.*179_*180delinsGA	XP_016856337.1:n.*179_*180delinsGA
XM_017000849.1:c.*179_*180delinsGA	XP_016856338.1:n.*179_*180delinsGA
XM_017000850.1:c.*179_*180delinsGA	XP_016856339.1:n.*179_*180delinsGA
NM_022089.4:c.*179_*180delinsGA MANE Select	NP_071372.1:n.*179_*180delinsGA
NM_001141973.3:c.*179_*180delinsGA	NP_001135445.1:n.*179_*180delinsGA
NM_001141974.3:c.3420_3421delinsGA	NP_001135446.1:p.Trp1140=