Canonical Allele Identifier: CA1156049857

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986504_16986507delinsCCAG , CM000663.2:g.16986504_16986507delinsCCAG	GRCh38
NC_000001.10:g.17312999_17313002delinsCCAG , CM000663.1:g.17312999_17313002delinsCCAG	GRCh37
NC_000001.9:g.17185586_17185589delinsCCAG	NCBI36
NG_009054.1:g.30422_30425delinsCTGG
NG_029688.1:g.80_83delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3361_3364delinsCTGG MANE Select	ENSP00000327214.8:p.Leu1121=
ENST00000326735.12:c.3361_3364delinsCTGG	ENSP00000327214.8:p.Leu1121=
ENST00000341676.9:c.3104-149_3104-146delinsCTGG	ENSP00000341115.5:n.3104-149_3104-146delinsCTGG
ENST00000452699.5:c.3346_3349delinsCTGG	ENSP00000413307.1:p.Leu1116=
ENST00000466561.1:n.1407_1410delinsCTGG
ENST00000502418.1:c.824-149_824-146delinsCTGG	ENSP00000423065.1:n.824-149_824-146delinsCTGG
NM_001141973.2:c.3346_3349delinsCTGG	NP_001135445.1:p.Leu1116=
NM_001141974.2:c.3104-149_3104-146delinsCTGG	NP_001135446.1:n.3104-149_3104-146delinsCTGG
NM_022089.3:c.3361_3364delinsCTGG	NP_071372.1:p.Leu1121=
XM_005245809.1:c.3236-149_3236-146delinsCTGG	XP_005245866.1:n.3236-149_3236-146delinsCTGG
XM_005245810.1:c.3233-149_3233-146delinsCTGG	XP_005245867.1:n.3233-149_3233-146delinsCTGG
XM_005245811.1:c.3221-149_3221-146delinsCTGG	XP_005245868.1:n.3221-149_3221-146delinsCTGG
XM_005245812.1:c.3209-149_3209-146delinsCTGG	XP_005245869.1:n.3209-149_3209-146delinsCTGG
XM_005245813.1:c.3176-149_3176-146delinsCTGG	XP_005245870.1:n.3176-149_3176-146delinsCTGG
XM_005245815.1:c.3119-149_3119-146delinsCTGG	XP_005245872.1:n.3119-149_3119-146delinsCTGG
XM_006710512.1:c.3218-149_3218-146delinsCTGG	XP_006710575.1:n.3218-149_3218-146delinsCTGG
XM_006710513.1:c.3194-149_3194-146delinsCTGG	XP_006710576.1:n.3194-149_3194-146delinsCTGG
XM_011541128.1:c.3221-149_3221-146delinsCTGG	XP_011539430.1:n.3221-149_3221-146delinsCTGG
XM_011541129.1:c.3029-149_3029-146delinsCTGG	XP_011539431.1:n.3029-149_3029-146delinsCTGG
XM_017000844.1:c.3346_3349delinsCTGG	XP_016856333.1:p.Leu1116=
XM_017000845.1:c.3343_3346delinsCTGG	XP_016856334.1:p.Leu1115=
XM_017000846.1:c.3319_3322delinsCTGG	XP_016856335.1:p.Leu1107=
XM_017000847.1:c.3316_3319delinsCTGG	XP_016856336.1:p.Leu1106=
XM_017000848.1:c.3244_3247delinsCTGG	XP_016856337.1:p.Leu1082=
XM_017000849.1:c.3229_3232delinsCTGG	XP_016856338.1:p.Leu1077=
XM_017000850.1:c.3154_3157delinsCTGG	XP_016856339.1:p.Leu1052=
NM_022089.4:c.3361_3364delinsCTGG MANE Select	NP_071372.1:p.Leu1121=
NM_001141973.3:c.3346_3349delinsCTGG	NP_001135445.1:p.Leu1116=
NM_001141974.3:c.3104-149_3104-146delinsCTGG	NP_001135446.1:n.3104-149_3104-146delinsCTGG