Canonical Allele Identifier: CA2643673974

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996343-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996350_16996351dup , CM000663.2:g.16996350_16996351dup	GRCh38
NC_000001.10:g.17322845_17322846dup , CM000663.1:g.17322845_17322846dup	GRCh37
NC_000001.9:g.17195432_17195433dup	NCBI36
NG_009054.1:g.20584_20585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1306+41_1306+42dup MANE Select	ENSP00000327214.8:n.1306+41_1306+42dup
ENST00000326735.12:c.1306+41_1306+42dup	ENSP00000327214.8:n.1306+41_1306+42dup
ENST00000341676.9:c.1291+41_1291+42dup	ENSP00000341115.5:n.1291+41_1291+42dup
ENST00000452699.5:c.1291+41_1291+42dup	ENSP00000413307.1:n.1291+41_1291+42dup
ENST00000463860.5:n.914+41_914+42dup
ENST00000502860.1:n.335-45_335-44dup
ENST00000506174.5:c.448+41_448+42dup	ENSP00000424393.1:n.448+41_448+42dup
ENST00000509392.1:n.350_351dup
ENST00000617114.4:c.335-45_335-44dup	ENSP00000478781.1:n.335-45_335-44dup
NM_001141973.2:c.1291+41_1291+42dup	NP_001135445.1:n.1291+41_1291+42dup
NM_001141974.2:c.1291+41_1291+42dup	NP_001135446.1:n.1291+41_1291+42dup
NM_022089.3:c.1306+41_1306+42dup	NP_071372.1:n.1306+41_1306+42dup
XM_005245809.1:c.1306+41_1306+42dup	XP_005245866.1:n.1306+41_1306+42dup
XM_005245810.1:c.1303+41_1303+42dup	XP_005245867.1:n.1303+41_1303+42dup
XM_005245811.1:c.1291+41_1291+42dup	XP_005245868.1:n.1291+41_1291+42dup
XM_005245812.1:c.1279+41_1279+42dup	XP_005245869.1:n.1279+41_1279+42dup
XM_005245813.1:c.1306+41_1306+42dup	XP_005245870.1:n.1306+41_1306+42dup
XM_005245815.1:c.1306+41_1306+42dup	XP_005245872.1:n.1306+41_1306+42dup
XM_006710512.1:c.1288+41_1288+42dup	XP_006710575.1:n.1288+41_1288+42dup
XM_006710513.1:c.1264+41_1264+42dup	XP_006710576.1:n.1264+41_1264+42dup
XM_011541128.1:c.1306+41_1306+42dup	XP_011539430.1:n.1306+41_1306+42dup
XM_011541129.1:c.1306+41_1306+42dup	XP_011539431.1:n.1306+41_1306+42dup
XM_017000844.1:c.1306+41_1306+42dup	XP_016856333.1:n.1306+41_1306+42dup
XM_017000845.1:c.1288+41_1288+42dup	XP_016856334.1:n.1288+41_1288+42dup
XM_017000846.1:c.1264+41_1264+42dup	XP_016856335.1:n.1264+41_1264+42dup
XM_017000847.1:c.1276+41_1276+42dup	XP_016856336.1:n.1276+41_1276+42dup
XM_017000848.1:c.1306+41_1306+42dup	XP_016856337.1:n.1306+41_1306+42dup
XM_017000849.1:c.1291+41_1291+42dup	XP_016856338.1:n.1291+41_1291+42dup
XM_017000850.1:c.1306+41_1306+42dup	XP_016856339.1:n.1306+41_1306+42dup
NM_022089.4:c.1306+41_1306+42dup MANE Select	NP_071372.1:n.1306+41_1306+42dup
NM_001141973.3:c.1291+41_1291+42dup	NP_001135445.1:n.1291+41_1291+42dup
NM_001141974.3:c.1291+41_1291+42dup	NP_001135446.1:n.1291+41_1291+42dup