Canonical Allele Identifier: CA1430617552

Gene: ATP13A3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194456265_194456270delinsGATCTT , CM000665.2:g.194456265_194456270delinsGATCTT	GRCh38
NC_000003.11:g.194176994_194176999delinsGATCTT , CM000665.1:g.194176994_194176999delinsGATCTT	GRCh37
NC_000003.10:g.195658283_195658288delinsGATCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439040.6:c.561-308_561-303delinsAAGATC	ENSP00000416508.1:n.561-308_561-303delinsAAGATC
ENST00000642744.2:c.561-308_561-303delinsAAGATC	ENSP00000493923.2:n.561-308_561-303delinsAAGATC
ENST00000687055.1:n.1353-308_1353-303delinsAAGATC
ENST00000690810.1:n.502-308_502-303delinsAAGATC
ENST00000642744.1:c.480-308_480-303delinsAAGATC	ENSP00000493923.1:n.480-308_480-303delinsAAGATC
ENST00000645319.2:c.561-308_561-303delinsAAGATC MANE Select	ENSP00000494937.2:n.561-308_561-303delinsAAGATC
ENST00000645538.1:c.561-308_561-303delinsAAGATC	ENSP00000494471.1:n.561-308_561-303delinsAAGATC
ENST00000256031.8:c.561-308_561-303delinsAAGATC	ENSP00000256031.4:n.561-308_561-303delinsAAGATC
ENST00000439040.5:c.561-308_561-303delinsAAGATC	ENSP00000416508.1:n.561-308_561-303delinsAAGATC
NM_024524.3:c.561-308_561-303delinsAAGATC	NP_078800.3:n.561-308_561-303delinsAAGATC
XM_005269357.2:c.561-308_561-303delinsAAGATC	XP_005269414.1:n.561-308_561-303delinsAAGATC
XM_005269360.3:c.561-308_561-303delinsAAGATC	XP_005269417.1:n.561-308_561-303delinsAAGATC
XM_011513120.1:c.561-308_561-303delinsAAGATC	XP_011511422.1:n.561-308_561-303delinsAAGATC
XM_011513121.1:c.561-308_561-303delinsAAGATC	XP_011511423.1:n.561-308_561-303delinsAAGATC
XM_011513122.1:c.480-308_480-303delinsAAGATC	XP_011511424.1:n.480-308_480-303delinsAAGATC
XM_011513123.1:c.561-308_561-303delinsAAGATC	XP_011511425.1:n.561-308_561-303delinsAAGATC
XM_011513124.1:c.561-308_561-303delinsAAGATC	XP_011511426.1:n.561-308_561-303delinsAAGATC
XM_005269357.3:c.561-308_561-303delinsAAGATC	XP_005269414.1:n.561-308_561-303delinsAAGATC
XM_011513120.2:c.561-308_561-303delinsAAGATC	XP_011511422.1:n.561-308_561-303delinsAAGATC
XM_011513123.2:c.561-308_561-303delinsAAGATC	XP_011511425.1:n.561-308_561-303delinsAAGATC
XM_011513124.3:c.561-308_561-303delinsAAGATC	XP_011511426.1:n.561-308_561-303delinsAAGATC
NM_001367549.1:c.561-308_561-303delinsAAGATC MANE Select	NP_001354478.1:n.561-308_561-303delinsAAGATC
NM_001374836.1:c.480-308_480-303delinsAAGATC	NP_001361765.1:n.480-308_480-303delinsAAGATC
NR_164666.1:n.1077-308_1077-303delinsAAGATC
NR_164667.1:n.1086-308_1086-303delinsAAGATC
NM_024524.4:c.561-308_561-303delinsAAGATC	NP_078800.3:n.561-308_561-303delinsAAGATC