Canonical Allele Identifier: CA2586964007

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996095_16996096del , CM000663.2:g.16996095_16996096del	GRCh38
NC_000001.10:g.17322590_17322591del , CM000663.1:g.17322590_17322591del	GRCh37
NC_000001.9:g.17195177_17195178del	NCBI36
NG_009054.1:g.20833_20834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1422_1423del MANE Select	ENSP00000327214.8:p.Ala475CysfsTer?
ENST00000326735.12:c.1422_1423del	ENSP00000327214.8:p.Ala475CysfsTer?
ENST00000341676.9:c.1407_1408del	ENSP00000341115.5:p.Ala470CysfsTer?
ENST00000452699.5:c.1407_1408del	ENSP00000413307.1:p.Ala470CysfsTer?
ENST00000463860.5:n.1030_1031del
ENST00000502860.1:n.450_451del
ENST00000503552.1:c.99_100del	ENSP00000421126.1:p.Ala34CysfsTer?
ENST00000506174.5:c.564_565del	ENSP00000424393.1:p.Ala189CysfsTer?
ENST00000509392.1:n.510_511del
ENST00000617114.4:c.450_451del	ENSP00000478781.1:p.Ala151CysfsTer?
NM_001141973.2:c.1407_1408del	NP_001135445.1:p.Ala470CysfsTer?
NM_001141974.2:c.1407_1408del	NP_001135446.1:p.Ala470CysfsTer?
NM_022089.3:c.1422_1423del	NP_071372.1:p.Ala475CysfsTer?
XM_005245809.1:c.1422_1423del	XP_005245866.1:p.Ala475CysfsTer?
XM_005245810.1:c.1419_1420del	XP_005245867.1:p.Ala474CysfsTer?
XM_005245811.1:c.1407_1408del	XP_005245868.1:p.Ala470CysfsTer?
XM_005245812.1:c.1395_1396del	XP_005245869.1:p.Ala466CysfsTer?
XM_005245813.1:c.1422_1423del	XP_005245870.1:p.Ala475CysfsTer?
XM_005245815.1:c.1422_1423del	XP_005245872.1:p.Ala475CysfsTer?
XM_006710512.1:c.1404_1405del	XP_006710575.1:p.Ala469CysfsTer?
XM_006710513.1:c.1380_1381del	XP_006710576.1:p.Ala461CysfsTer?
XM_011541128.1:c.1422_1423del	XP_011539430.1:p.Ala475CysfsTer?
XM_011541129.1:c.1422_1423del	XP_011539431.1:p.Ala475CysfsTer?
XM_017000844.1:c.1422_1423del	XP_016856333.1:p.Ala475CysfsTer?
XM_017000845.1:c.1404_1405del	XP_016856334.1:p.Ala469CysfsTer?
XM_017000846.1:c.1380_1381del	XP_016856335.1:p.Ala461CysfsTer?
XM_017000847.1:c.1392_1393del	XP_016856336.1:p.Ala465CysfsTer?
XM_017000848.1:c.1422_1423del	XP_016856337.1:p.Ala475CysfsTer?
XM_017000849.1:c.1407_1408del	XP_016856338.1:p.Ala470CysfsTer?
XM_017000850.1:c.1422_1423del	XP_016856339.1:p.Ala475CysfsTer?
NM_022089.4:c.1422_1423del MANE Select	NP_071372.1:p.Ala475CysfsTer?
NM_001141973.3:c.1407_1408del	NP_001135445.1:p.Ala470CysfsTer?
NM_001141974.3:c.1407_1408del	NP_001135446.1:p.Ala470CysfsTer?