Canonical Allele Identifier: CA9750869
Gene: PANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4560
dbSNP Id: rs766251466

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3916956_3916958del , CM000682.2:g.3916956_3916958del GRCh38
NC_000020.10:g.3897603_3897605del , CM000682.1:g.3897603_3897605del GRCh37
NC_000020.9:g.3845603_3845605del NCBI36
NG_008131.3:g.33118_33120del

Transcript Alleles

HGVS Amino-acid change
ENST00000610179.7:c.1112_1114del MANE Select ENSP00000477429.2:p.Arg371_Glu372delinsGl...
ENST00000316562.9:c.1442_1444del ENSP00000313377.4:p.Arg481_Glu482delinsGl...
ENST00000336066.8:c.*453_*455del ENSP00000477229.2:n.*453_*455del
ENST00000610179.6:c.1112_1114del ENSP00000477429.2:p.Arg371_Glu372delinsGl...
ENST00000643504.2:c.*742_*744del ENSP00000495157.2:n.*742_*744del
ENST00000646394.1:c.939_941del
ENST00000316562.8:c.1442_1444del ENSP00000313377.4:p.Arg481_Glu482delinsGl...
ENST00000336066.7:c.*453_*455del ENSP00000477229.1:n.*453_*455del
ENST00000464452.1:n.677_679del
ENST00000495692.5:c.134_136del ENSP00000476745.1:p.Arg45_Glu46delinsGln
ENST00000497424.5:c.569_571del ENSP00000417609.1:p.Arg190_Glu191delinsGl...
ENST00000610179.5:c.1073_1075del ENSP00000477429.1:p.Arg358_Glu359delinsGl...
ENST00000621507.1:c.569_571del ENSP00000481523.1:p.Arg190_Glu191delinsGl...
NM_024960.4:c.569_571del NP_079236.3:p.Arg190_Glu191delinsGln
NM_153638.2:c.1442_1444del NP_705902.2:p.Arg481_Glu482delinsGln
NM_153640.2:c.569_571del NP_705904.1:p.Arg190_Glu191delinsGln
XM_005260835.2:c.827_829del XP_005260892.1:p.Arg276_Glu277delinsGln
XM_005260836.3:c.569_571del XP_005260893.3:p.Arg190_Glu191delinsGln
XM_006723631.1:c.569_571del XP_006723694.1:p.Arg190_Glu191delinsGln
XM_011529364.1:c.1265_1267del XP_011527666.1:p.Arg422_Glu423delinsGln
NM_001324191.1:c.569_571del NP_001311120.1:p.Arg190_Glu191delinsGln
NM_001324193.1:c.134_136del NP_001311122.1:p.Arg45_Glu46delinsGln
NM_024960.5:c.569_571del NP_079236.3:p.Arg190_Glu191delinsGln
NM_153638.3:c.1442_1444del NP_705902.2:p.Arg481_Glu482delinsGln
NM_153640.3:c.569_571del NP_705904.1:p.Arg190_Glu191delinsGln
NR_136715.1:n.1466_1468del
XM_005260835.3:c.827_829del XP_005260892.1:p.Arg276_Glu277delinsGln
XM_005260836.4:c.569_571del XP_005260893.3:p.Arg190_Glu191delinsGln
XM_011529364.3:c.1265_1267del XP_011527666.1:p.Arg422_Glu423delinsGln
XM_017028077.2:c.134_136del XP_016883566.1:p.Arg45_Glu46delinsGln
XM_017028078.2:c.134_136del XP_016883567.1:p.Arg45_Glu46delinsGln
XM_017028079.2:c.134_136del XP_016883568.1:p.Arg45_Glu46delinsGln
XM_024452002.1:c.134_136del XP_024307770.1:p.Arg45_Glu46delinsGln
XR_002958533.1:n.2230_2232del
NM_001324191.2:c.569_571del NP_001311120.1:p.Arg190_Glu191delinsGln
NM_001324193.2:c.134_136del NP_001311122.1:p.Arg45_Glu46delinsGln
NM_024960.6:c.569_571del NP_079236.3:p.Arg190_Glu191delinsGln
NR_136715.2:n.1013_1015del
NM_001386393.1:c.1112_1114del MANE Select NP_001373322.1:p.Arg371_Glu372delinsGln
NM_153638.4:c.1442_1444del NP_705902.2:p.Arg481_Glu482delinsGln
NM_153640.4:c.569_571del NP_705904.1:p.Arg190_Glu191delinsGln