Canonical Allele Identifier: CA2742637223

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995968_16995983del , CM000663.2:g.16995968_16995983del	GRCh38
NC_000001.10:g.17322463_17322478del , CM000663.1:g.17322463_17322478del	GRCh37
NC_000001.9:g.17195050_17195065del	NCBI36
NG_009054.1:g.20946_20961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1535_1542+8del
ENST00000326735.12:c.1535_1542+8del
ENST00000341676.9:c.1520_1527+8del
ENST00000452699.5:c.1520_1527+8del
ENST00000463860.5:n.1143_1158del
ENST00000502860.1:n.563_578del
ENST00000503552.1:c.212_219+8del
ENST00000617114.4:c.563_578del	ENSP00000478781.1:p.Phe188CysfsTer17
NM_001141973.2:c.1520_1527+8del
NM_001141974.2:c.1520_1527+8del
NM_022089.3:c.1535_1542+8del
XM_005245809.1:c.1535_1542+8del
XM_005245810.1:c.1532_1539+8del
XM_005245811.1:c.1520_1527+8del
XM_005245812.1:c.1508_1515+8del
XM_005245813.1:c.1535_1542+8del
XM_005245815.1:c.1535_1542+8del
XM_006710512.1:c.1517_1524+8del
XM_006710513.1:c.1493_1500+8del
XM_011541128.1:c.1527+8_1527+23del	XP_011539430.1:n.1527+8_1527+23del
XM_011541129.1:c.1535_1542+8del
XM_017000844.1:c.1527+8_1527+23del	XP_016856333.1:n.1527+8_1527+23del
XM_017000845.1:c.1517_1524+8del
XM_017000846.1:c.1493_1500+8del
XM_017000847.1:c.1497+8_1497+23del	XP_016856336.1:n.1497+8_1497+23del
XM_017000848.1:c.1535_1542+8del
XM_017000849.1:c.1520_1527+8del
XM_017000850.1:c.1535_1542+8del
NM_022089.4:c.1535_1542+8del
NM_001141973.3:c.1520_1527+8del
NM_001141974.3:c.1520_1527+8del