Canonical Allele Identifier: CA1156050168

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986747_16986748delinsCA , CM000663.2:g.16986747_16986748delinsCA	GRCh38
NC_000001.10:g.17313242_17313243delinsCA , CM000663.1:g.17313242_17313243delinsCA	GRCh37
NC_000001.9:g.17185829_17185830delinsCA	NCBI36
NG_009054.1:g.30181_30182delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3235+57_3235+58delinsTG MANE Select	ENSP00000327214.8:n.3235+57_3235+58delinsTG
ENST00000326735.12:c.3235+57_3235+58delinsTG	ENSP00000327214.8:n.3235+57_3235+58delinsTG
ENST00000341676.9:c.3103+57_3103+58delinsTG	ENSP00000341115.5:n.3103+57_3103+58delinsTG
ENST00000452699.5:c.3220+57_3220+58delinsTG	ENSP00000413307.1:n.3220+57_3220+58delinsTG
ENST00000466561.1:n.1166_1167delinsTG
ENST00000502418.1:c.823+57_823+58delinsTG	ENSP00000423065.1:n.823+57_823+58delinsTG
NM_001141973.2:c.3220+57_3220+58delinsTG	NP_001135445.1:n.3220+57_3220+58delinsTG
NM_001141974.2:c.3103+57_3103+58delinsTG	NP_001135446.1:n.3103+57_3103+58delinsTG
NM_022089.3:c.3235+57_3235+58delinsTG	NP_071372.1:n.3235+57_3235+58delinsTG
XM_005245809.1:c.3235+57_3235+58delinsTG	XP_005245866.1:n.3235+57_3235+58delinsTG
XM_005245810.1:c.3232+57_3232+58delinsTG	XP_005245867.1:n.3232+57_3232+58delinsTG
XM_005245811.1:c.3220+57_3220+58delinsTG	XP_005245868.1:n.3220+57_3220+58delinsTG
XM_005245812.1:c.3208+57_3208+58delinsTG	XP_005245869.1:n.3208+57_3208+58delinsTG
XM_005245813.1:c.3175+57_3175+58delinsTG	XP_005245870.1:n.3175+57_3175+58delinsTG
XM_005245815.1:c.3118+57_3118+58delinsTG	XP_005245872.1:n.3118+57_3118+58delinsTG
XM_006710512.1:c.3217+57_3217+58delinsTG	XP_006710575.1:n.3217+57_3217+58delinsTG
XM_006710513.1:c.3193+57_3193+58delinsTG	XP_006710576.1:n.3193+57_3193+58delinsTG
XM_011541128.1:c.3220+57_3220+58delinsTG	XP_011539430.1:n.3220+57_3220+58delinsTG
XM_011541129.1:c.3028+57_3028+58delinsTG	XP_011539431.1:n.3028+57_3028+58delinsTG
XM_017000844.1:c.3220+57_3220+58delinsTG	XP_016856333.1:n.3220+57_3220+58delinsTG
XM_017000845.1:c.3217+57_3217+58delinsTG	XP_016856334.1:n.3217+57_3217+58delinsTG
XM_017000846.1:c.3193+57_3193+58delinsTG	XP_016856335.1:n.3193+57_3193+58delinsTG
XM_017000847.1:c.3190+57_3190+58delinsTG	XP_016856336.1:n.3190+57_3190+58delinsTG
XM_017000848.1:c.3118+57_3118+58delinsTG	XP_016856337.1:n.3118+57_3118+58delinsTG
XM_017000849.1:c.3103+57_3103+58delinsTG	XP_016856338.1:n.3103+57_3103+58delinsTG
XM_017000850.1:c.3028+57_3028+58delinsTG	XP_016856339.1:n.3028+57_3028+58delinsTG
NM_022089.4:c.3235+57_3235+58delinsTG MANE Select	NP_071372.1:n.3235+57_3235+58delinsTG
NM_001141973.3:c.3220+57_3220+58delinsTG	NP_001135445.1:n.3220+57_3220+58delinsTG
NM_001141974.3:c.3103+57_3103+58delinsTG	NP_001135446.1:n.3103+57_3103+58delinsTG