Canonical Allele Identifier: CA645512528

Gene: ATP13A2

Linked Data

• COSMIC: COSM5378447

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986154_16986155delinsAA , CM000663.2:g.16986154_16986155delinsAA	GRCh38
NC_000001.10:g.17312649_17312650delinsAA , CM000663.1:g.17312649_17312650delinsAA	GRCh37
NC_000001.9:g.17185236_17185237delinsAA	NCBI36
NG_009054.1:g.30774_30775delinsTT
NG_029688.1:g.432_433delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*66_*67delinsTT MANE Select	ENSP00000327214.8:n.*66_*67delinsTT
ENST00000326735.12:c.*66_*67delinsTT	ENSP00000327214.8:n.*66_*67delinsTT
ENST00000341676.9:c.3307_3308delinsTT	ENSP00000341115.5:p.Pro1103Leu
ENST00000452699.5:c.*66_*67delinsTT	ENSP00000413307.1:n.*66_*67delinsTT
ENST00000466561.1:n.1655_1656delinsTT
ENST00000502418.1:c.1027_1028delinsTT	ENSP00000423065.1:p.Pro343Leu
NM_001141973.2:c.*66_*67delinsTT	NP_001135445.1:n.*66_*67delinsTT
NM_001141974.2:c.3307_3308delinsTT	NP_001135446.1:p.Pro1103Leu
NM_022089.3:c.*66_*67delinsTT	NP_071372.1:n.*66_*67delinsTT
XM_005245809.1:c.3439_3440delinsTT	XP_005245866.1:p.Pro1147Leu
XM_005245810.1:c.3436_3437delinsTT	XP_005245867.1:p.Pro1146Leu
XM_005245811.1:c.3424_3425delinsTT	XP_005245868.1:p.Pro1142Leu
XM_005245812.1:c.3412_3413delinsTT	XP_005245869.1:p.Pro1138Leu
XM_005245813.1:c.3379_3380delinsTT	XP_005245870.1:p.Pro1127Leu
XM_005245815.1:c.3322_3323delinsTT	XP_005245872.1:p.Pro1108Leu
XM_006710512.1:c.3421_3422delinsTT	XP_006710575.1:p.Pro1141Leu
XM_006710513.1:c.3397_3398delinsTT	XP_006710576.1:p.Pro1133Leu
XM_011541128.1:c.3424_3425delinsTT	XP_011539430.1:p.Pro1142Leu
XM_011541129.1:c.3232_3233delinsTT	XP_011539431.1:p.Pro1078Leu
XM_017000844.1:c.*66_*67delinsTT	XP_016856333.1:n.*66_*67delinsTT
XM_017000845.1:c.*66_*67delinsTT	XP_016856334.1:n.*66_*67delinsTT
XM_017000846.1:c.*66_*67delinsTT	XP_016856335.1:n.*66_*67delinsTT
XM_017000847.1:c.*66_*67delinsTT	XP_016856336.1:n.*66_*67delinsTT
XM_017000848.1:c.*66_*67delinsTT	XP_016856337.1:n.*66_*67delinsTT
XM_017000849.1:c.*66_*67delinsTT	XP_016856338.1:n.*66_*67delinsTT
XM_017000850.1:c.*66_*67delinsTT	XP_016856339.1:n.*66_*67delinsTT
NM_022089.4:c.*66_*67delinsTT MANE Select	NP_071372.1:n.*66_*67delinsTT
NM_001141973.3:c.*66_*67delinsTT	NP_001135445.1:n.*66_*67delinsTT
NM_001141974.3:c.3307_3308delinsTT	NP_001135446.1:p.Pro1103Leu