Canonical Allele Identifier: CA1156031016

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996233_16996234delinsCA , CM000663.2:g.16996233_16996234delinsCA	GRCh38
NC_000001.10:g.17322728_17322729delinsCA , CM000663.1:g.17322728_17322729delinsCA	GRCh37
NC_000001.9:g.17195315_17195316delinsCA	NCBI36
NG_009054.1:g.20695_20696delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1353+20_1353+21delinsTG MANE Select	ENSP00000327214.8:n.1353+20_1353+21delinsTG
ENST00000326735.12:c.1353+20_1353+21delinsTG	ENSP00000327214.8:n.1353+20_1353+21delinsTG
ENST00000341676.9:c.1338+20_1338+21delinsTG	ENSP00000341115.5:n.1338+20_1338+21delinsTG
ENST00000452699.5:c.1338+20_1338+21delinsTG	ENSP00000413307.1:n.1338+20_1338+21delinsTG
ENST00000463860.5:n.961+20_961+21delinsTG
ENST00000502860.1:n.381+20_381+21delinsTG
ENST00000503552.1:c.30+20_30+21delinsTG	ENSP00000421126.1:n.30+20_30+21delinsTG
ENST00000506174.5:c.495+20_495+21delinsTG	ENSP00000424393.1:n.495+20_495+21delinsTG
ENST00000509392.1:n.441+20_441+21delinsTG
ENST00000617114.4:c.381+20_381+21delinsTG	ENSP00000478781.1:n.381+20_381+21delinsTG
NM_001141973.2:c.1338+20_1338+21delinsTG	NP_001135445.1:n.1338+20_1338+21delinsTG
NM_001141974.2:c.1338+20_1338+21delinsTG	NP_001135446.1:n.1338+20_1338+21delinsTG
NM_022089.3:c.1353+20_1353+21delinsTG	NP_071372.1:n.1353+20_1353+21delinsTG
XM_005245809.1:c.1353+20_1353+21delinsTG	XP_005245866.1:n.1353+20_1353+21delinsTG
XM_005245810.1:c.1350+20_1350+21delinsTG	XP_005245867.1:n.1350+20_1350+21delinsTG
XM_005245811.1:c.1338+20_1338+21delinsTG	XP_005245868.1:n.1338+20_1338+21delinsTG
XM_005245812.1:c.1326+20_1326+21delinsTG	XP_005245869.1:n.1326+20_1326+21delinsTG
XM_005245813.1:c.1353+20_1353+21delinsTG	XP_005245870.1:n.1353+20_1353+21delinsTG
XM_005245815.1:c.1353+20_1353+21delinsTG	XP_005245872.1:n.1353+20_1353+21delinsTG
XM_006710512.1:c.1335+20_1335+21delinsTG	XP_006710575.1:n.1335+20_1335+21delinsTG
XM_006710513.1:c.1311+20_1311+21delinsTG	XP_006710576.1:n.1311+20_1311+21delinsTG
XM_011541128.1:c.1353+20_1353+21delinsTG	XP_011539430.1:n.1353+20_1353+21delinsTG
XM_011541129.1:c.1353+20_1353+21delinsTG	XP_011539431.1:n.1353+20_1353+21delinsTG
XM_017000844.1:c.1353+20_1353+21delinsTG	XP_016856333.1:n.1353+20_1353+21delinsTG
XM_017000845.1:c.1335+20_1335+21delinsTG	XP_016856334.1:n.1335+20_1335+21delinsTG
XM_017000846.1:c.1311+20_1311+21delinsTG	XP_016856335.1:n.1311+20_1311+21delinsTG
XM_017000847.1:c.1323+20_1323+21delinsTG	XP_016856336.1:n.1323+20_1323+21delinsTG
XM_017000848.1:c.1353+20_1353+21delinsTG	XP_016856337.1:n.1353+20_1353+21delinsTG
XM_017000849.1:c.1338+20_1338+21delinsTG	XP_016856338.1:n.1338+20_1338+21delinsTG
XM_017000850.1:c.1353+20_1353+21delinsTG	XP_016856339.1:n.1353+20_1353+21delinsTG
NM_022089.4:c.1353+20_1353+21delinsTG MANE Select	NP_071372.1:n.1353+20_1353+21delinsTG
NM_001141973.3:c.1338+20_1338+21delinsTG	NP_001135445.1:n.1338+20_1338+21delinsTG
NM_001141974.3:c.1338+20_1338+21delinsTG	NP_001135446.1:n.1338+20_1338+21delinsTG