Canonical Allele Identifier: CA637297

Gene: ATP13A2

Linked Data

• dbSNP Id: rs774630886
• ExAC: 1:17322855 AGAG / A
• gnomAD v2: 1-17322855-AGAG-A
• gnomAD v4: 1-16996360-AGAG-A
• MyVariant Identifiers: chr1:g.17322856_17322858del (hg19) ; chr1:g.16996361_16996363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996365_16996367del , CM000663.2:g.16996365_16996367del	GRCh38
NC_000001.10:g.17322860_17322862del , CM000663.1:g.17322860_17322862del	GRCh37
NC_000001.9:g.17195447_17195449del	NCBI36
NG_009054.1:g.20566_20568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1306+23_1306+25del MANE Select	ENSP00000327214.8:n.1306+23_1306+25del
ENST00000326735.12:c.1306+23_1306+25del	ENSP00000327214.8:n.1306+23_1306+25del
ENST00000341676.9:c.1291+23_1291+25del	ENSP00000341115.5:n.1291+23_1291+25del
ENST00000452699.5:c.1291+23_1291+25del	ENSP00000413307.1:n.1291+23_1291+25del
ENST00000463860.5:n.914+23_914+25del
ENST00000502860.1:n.335-63_335-61del
ENST00000506174.5:c.448+23_448+25del	ENSP00000424393.1:n.448+23_448+25del
ENST00000509392.1:n.332_334del
ENST00000617114.4:c.335-63_335-61del	ENSP00000478781.1:n.335-63_335-61del
NM_001141973.2:c.1291+23_1291+25del	NP_001135445.1:n.1291+23_1291+25del
NM_001141974.2:c.1291+23_1291+25del	NP_001135446.1:n.1291+23_1291+25del
NM_022089.3:c.1306+23_1306+25del	NP_071372.1:n.1306+23_1306+25del
XM_005245809.1:c.1306+23_1306+25del	XP_005245866.1:n.1306+23_1306+25del
XM_005245810.1:c.1303+23_1303+25del	XP_005245867.1:n.1303+23_1303+25del
XM_005245811.1:c.1291+23_1291+25del	XP_005245868.1:n.1291+23_1291+25del
XM_005245812.1:c.1279+23_1279+25del	XP_005245869.1:n.1279+23_1279+25del
XM_005245813.1:c.1306+23_1306+25del	XP_005245870.1:n.1306+23_1306+25del
XM_005245815.1:c.1306+23_1306+25del	XP_005245872.1:n.1306+23_1306+25del
XM_006710512.1:c.1288+23_1288+25del	XP_006710575.1:n.1288+23_1288+25del
XM_006710513.1:c.1264+23_1264+25del	XP_006710576.1:n.1264+23_1264+25del
XM_011541128.1:c.1306+23_1306+25del	XP_011539430.1:n.1306+23_1306+25del
XM_011541129.1:c.1306+23_1306+25del	XP_011539431.1:n.1306+23_1306+25del
XM_017000844.1:c.1306+23_1306+25del	XP_016856333.1:n.1306+23_1306+25del
XM_017000845.1:c.1288+23_1288+25del	XP_016856334.1:n.1288+23_1288+25del
XM_017000846.1:c.1264+23_1264+25del	XP_016856335.1:n.1264+23_1264+25del
XM_017000847.1:c.1276+23_1276+25del	XP_016856336.1:n.1276+23_1276+25del
XM_017000848.1:c.1306+23_1306+25del	XP_016856337.1:n.1306+23_1306+25del
XM_017000849.1:c.1291+23_1291+25del	XP_016856338.1:n.1291+23_1291+25del
XM_017000850.1:c.1306+23_1306+25del	XP_016856339.1:n.1306+23_1306+25del
NM_022089.4:c.1306+23_1306+25del MANE Select	NP_071372.1:n.1306+23_1306+25del
NM_001141973.3:c.1291+23_1291+25del	NP_001135445.1:n.1291+23_1291+25del
NM_001141974.3:c.1291+23_1291+25del	NP_001135446.1:n.1291+23_1291+25del