Canonical Allele Identifier: CA1057959727

Gene: ATP13A3

Linked Data

• dbSNP Id: rs1719218830
• gnomAD v3: 3-194456272-A-ATTTT
• gnomAD v4: 3-194456272-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194456272_194456273insTTTT , CM000665.2:g.194456272_194456273insTTTT	GRCh38
NC_000003.11:g.194177001_194177002insTTTT , CM000665.1:g.194177001_194177002insTTTT	GRCh37
NC_000003.10:g.195658290_195658291insTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439040.6:c.561-311_561-310insAAAA	ENSP00000416508.1:n.561-311_561-310insAAAA
ENST00000642744.2:c.561-311_561-310insAAAA	ENSP00000493923.2:n.561-311_561-310insAAAA
ENST00000687055.1:n.1353-311_1353-310insAAAA
ENST00000690810.1:n.502-311_502-310insAAAA
ENST00000642744.1:c.480-311_480-310insAAAA	ENSP00000493923.1:n.480-311_480-310insAAAA
ENST00000645319.2:c.561-311_561-310insAAAA MANE Select	ENSP00000494937.2:n.561-311_561-310insAAAA
ENST00000645538.1:c.561-311_561-310insAAAA	ENSP00000494471.1:n.561-311_561-310insAAAA
ENST00000256031.8:c.561-311_561-310insAAAA	ENSP00000256031.4:n.561-311_561-310insAAAA
ENST00000439040.5:c.561-311_561-310insAAAA	ENSP00000416508.1:n.561-311_561-310insAAAA
NM_024524.3:c.561-311_561-310insAAAA	NP_078800.3:n.561-311_561-310insAAAA
XM_005269357.2:c.561-311_561-310insAAAA	XP_005269414.1:n.561-311_561-310insAAAA
XM_005269360.3:c.561-311_561-310insAAAA	XP_005269417.1:n.561-311_561-310insAAAA
XM_011513120.1:c.561-311_561-310insAAAA	XP_011511422.1:n.561-311_561-310insAAAA
XM_011513121.1:c.561-311_561-310insAAAA	XP_011511423.1:n.561-311_561-310insAAAA
XM_011513122.1:c.480-311_480-310insAAAA	XP_011511424.1:n.480-311_480-310insAAAA
XM_011513123.1:c.561-311_561-310insAAAA	XP_011511425.1:n.561-311_561-310insAAAA
XM_011513124.1:c.561-311_561-310insAAAA	XP_011511426.1:n.561-311_561-310insAAAA
XM_005269357.3:c.561-311_561-310insAAAA	XP_005269414.1:n.561-311_561-310insAAAA
XM_011513120.2:c.561-311_561-310insAAAA	XP_011511422.1:n.561-311_561-310insAAAA
XM_011513123.2:c.561-311_561-310insAAAA	XP_011511425.1:n.561-311_561-310insAAAA
XM_011513124.3:c.561-311_561-310insAAAA	XP_011511426.1:n.561-311_561-310insAAAA
NM_001367549.1:c.561-311_561-310insAAAA MANE Select	NP_001354478.1:n.561-311_561-310insAAAA
NM_001374836.1:c.480-311_480-310insAAAA	NP_001361765.1:n.480-311_480-310insAAAA
NR_164666.1:n.1077-311_1077-310insAAAA
NR_164667.1:n.1086-311_1086-310insAAAA
NM_024524.4:c.561-311_561-310insAAAA	NP_078800.3:n.561-311_561-310insAAAA