Canonical Allele Identifier: CA2643673956

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996254-CCGGTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996259_16996264del , CM000663.2:g.16996259_16996264del	GRCh38
NC_000001.10:g.17322754_17322759del , CM000663.1:g.17322754_17322759del	GRCh37
NC_000001.9:g.17195341_17195346del	NCBI36
NG_009054.1:g.20669_20674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1347_1352del MANE Select	ENSP00000327214.8:p.Asn450_Arg451del
ENST00000326735.12:c.1347_1352del	ENSP00000327214.8:p.Asn450_Arg451del
ENST00000341676.9:c.1332_1337del	ENSP00000341115.5:p.Asn445_Arg446del
ENST00000452699.5:c.1332_1337del	ENSP00000413307.1:p.Asn445_Arg446del
ENST00000463860.5:n.955_960del
ENST00000502860.1:n.375_380del
ENST00000503552.1:c.24_29del	ENSP00000421126.1:p.Asn9_Arg10del
ENST00000506174.5:c.489_494del	ENSP00000424393.1:p.Asn164_Arg165del
ENST00000509392.1:n.435_440del
ENST00000617114.4:c.375_380del	ENSP00000478781.1:p.Asn126_Arg127del
NM_001141973.2:c.1332_1337del	NP_001135445.1:p.Asn445_Arg446del
NM_001141974.2:c.1332_1337del	NP_001135446.1:p.Asn445_Arg446del
NM_022089.3:c.1347_1352del	NP_071372.1:p.Asn450_Arg451del
XM_005245809.1:c.1347_1352del	XP_005245866.1:p.Asn450_Arg451del
XM_005245810.1:c.1344_1349del	XP_005245867.1:p.Asn449_Arg450del
XM_005245811.1:c.1332_1337del	XP_005245868.1:p.Asn445_Arg446del
XM_005245812.1:c.1320_1325del	XP_005245869.1:p.Asn441_Arg442del
XM_005245813.1:c.1347_1352del	XP_005245870.1:p.Asn450_Arg451del
XM_005245815.1:c.1347_1352del	XP_005245872.1:p.Asn450_Arg451del
XM_006710512.1:c.1329_1334del	XP_006710575.1:p.Asn444_Arg445del
XM_006710513.1:c.1305_1310del	XP_006710576.1:p.Asn436_Arg437del
XM_011541128.1:c.1347_1352del	XP_011539430.1:p.Asn450_Arg451del
XM_011541129.1:c.1347_1352del	XP_011539431.1:p.Asn450_Arg451del
XM_017000844.1:c.1347_1352del	XP_016856333.1:p.Asn450_Arg451del
XM_017000845.1:c.1329_1334del	XP_016856334.1:p.Asn444_Arg445del
XM_017000846.1:c.1305_1310del	XP_016856335.1:p.Asn436_Arg437del
XM_017000847.1:c.1317_1322del	XP_016856336.1:p.Asn440_Arg441del
XM_017000848.1:c.1347_1352del	XP_016856337.1:p.Asn450_Arg451del
XM_017000849.1:c.1332_1337del	XP_016856338.1:p.Asn445_Arg446del
XM_017000850.1:c.1347_1352del	XP_016856339.1:p.Asn450_Arg451del
NM_022089.4:c.1347_1352del MANE Select	NP_071372.1:p.Asn450_Arg451del
NM_001141973.3:c.1332_1337del	NP_001135445.1:p.Asn445_Arg446del
NM_001141974.3:c.1332_1337del	NP_001135446.1:p.Asn445_Arg446del