Canonical Allele Identifier: CA1156048745

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076704139

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986059_16986060insCT , CM000663.2:g.16986059_16986060insCT	GRCh38
NC_000001.10:g.17312554_17312555insCT , CM000663.1:g.17312554_17312555insCT	GRCh37
NC_000001.9:g.17185141_17185142insCT	NCBI36
NG_009054.1:g.30869_30870insAG
NG_029688.1:g.527_528insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*161_*162insAG MANE Select	ENSP00000327214.8:n.*161_*162insAG
ENST00000326735.12:c.*161_*162insAG	ENSP00000327214.8:n.*161_*162insAG
ENST00000341676.9:c.3402_3403insAG	ENSP00000341115.5:p.Tyr1135SerfsTer28
ENST00000452699.5:c.*161_*162insAG	ENSP00000413307.1:n.*161_*162insAG
ENST00000466561.1:n.1750_1751insAG
ENST00000502418.1:c.1122_1123insAG	ENSP00000423065.1:p.Tyr375SerfsTer?
NM_001141973.2:c.*161_*162insAG	NP_001135445.1:n.*161_*162insAG
NM_001141974.2:c.3402_3403insAG	NP_001135446.1:p.Tyr1135SerfsTer28
NM_022089.3:c.*161_*162insAG	NP_071372.1:n.*161_*162insAG
XM_005245809.1:c.3534_3535insAG	XP_005245866.1:p.Tyr1179SerfsTer28
XM_005245810.1:c.3531_3532insAG	XP_005245867.1:p.Tyr1178SerfsTer28
XM_005245811.1:c.3519_3520insAG	XP_005245868.1:p.Tyr1174SerfsTer28
XM_005245812.1:c.3507_3508insAG	XP_005245869.1:p.Tyr1170SerfsTer28
XM_005245813.1:c.3474_3475insAG	XP_005245870.1:p.Tyr1159SerfsTer28
XM_005245815.1:c.3417_3418insAG	XP_005245872.1:p.Tyr1140SerfsTer28
XM_006710512.1:c.3516_3517insAG	XP_006710575.1:p.Tyr1173SerfsTer28
XM_006710513.1:c.3492_3493insAG	XP_006710576.1:p.Tyr1165SerfsTer28
XM_011541128.1:c.3519_3520insAG	XP_011539430.1:p.Tyr1174SerfsTer28
XM_011541129.1:c.3327_3328insAG	XP_011539431.1:p.Tyr1110SerfsTer28
XM_017000844.1:c.*161_*162insAG	XP_016856333.1:n.*161_*162insAG
XM_017000845.1:c.*161_*162insAG	XP_016856334.1:n.*161_*162insAG
XM_017000846.1:c.*161_*162insAG	XP_016856335.1:n.*161_*162insAG
XM_017000847.1:c.*161_*162insAG	XP_016856336.1:n.*161_*162insAG
XM_017000848.1:c.*161_*162insAG	XP_016856337.1:n.*161_*162insAG
XM_017000849.1:c.*161_*162insAG	XP_016856338.1:n.*161_*162insAG
XM_017000850.1:c.*161_*162insAG	XP_016856339.1:n.*161_*162insAG
NM_022089.4:c.*161_*162insAG MANE Select	NP_071372.1:n.*161_*162insAG
NM_001141973.3:c.*161_*162insAG	NP_001135445.1:n.*161_*162insAG
NM_001141974.3:c.3402_3403insAG	NP_001135446.1:p.Tyr1135SerfsTer28