Canonical Allele Identifier: CA16620929
Gene: PANK2 HGNC NCBI

Linked Data

dbSNP Id: rs1064794317

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912495_3912497del , CM000682.2:g.3912495_3912497del GRCh38
NC_000020.10:g.3893142_3893144del , CM000682.1:g.3893142_3893144del GRCh37
NC_000020.9:g.3841142_3841144del NCBI36
NG_008131.3:g.28657_28659del

Transcript Alleles

HGVS Amino-acid change
ENST00000610179.7:c.943_945del MANE Select ENSP00000477429.2:p.Leu315del
ENST00000316562.9:c.1273_1275del ENSP00000313377.4:p.Leu425del
ENST00000336066.8:c.*284_*286del ENSP00000477229.2:n.*284_*286del
ENST00000610179.6:c.943_945del ENSP00000477429.2:p.Leu315del
ENST00000643504.2:c.*573_*575del ENSP00000495157.2:n.*573_*575del
ENST00000646394.1:c.770_772del
ENST00000316562.8:c.1273_1275del ENSP00000313377.4:p.Leu425del
ENST00000336066.7:c.*284_*286del ENSP00000477229.1:n.*284_*286del
ENST00000464452.1:n.508_510del
ENST00000495692.5:c.-36_-34del ENSP00000476745.1:n.-36_-34del
ENST00000497424.5:c.400_402del ENSP00000417609.1:p.Leu134del
ENST00000610179.5:c.904_906del ENSP00000477429.1:p.Leu302del
ENST00000621507.1:c.400_402del ENSP00000481523.1:p.Leu134del
NM_024960.4:c.400_402del NP_079236.3:p.Leu134del
NM_153638.2:c.1273_1275del NP_705902.2:p.Leu425del
NM_153640.2:c.400_402del NP_705904.1:p.Leu134del
XM_005260835.2:c.658_660del XP_005260892.1:p.Leu220del
XM_005260836.3:c.400_402del XP_005260893.3:p.Leu134del
XM_006723631.1:c.400_402del XP_006723694.1:p.Leu134del
XM_011529364.1:c.1235+1665_1235+1667del XP_011527666.1:n.1235+1665_1235+1667del
NM_001324191.1:c.400_402del NP_001311120.1:p.Leu134del
NM_001324193.1:c.-36_-34del NP_001311122.1:n.-36_-34del
NM_024960.5:c.400_402del NP_079236.3:p.Leu134del
NM_153638.3:c.1273_1275del NP_705902.2:p.Leu425del
NM_153640.3:c.400_402del NP_705904.1:p.Leu134del
NR_136715.1:n.1297_1299del
XM_005260835.3:c.658_660del XP_005260892.1:p.Leu220del
XM_005260836.4:c.400_402del XP_005260893.3:p.Leu134del
XM_011529364.3:c.1235+1665_1235+1667del XP_011527666.1:n.1235+1665_1235+1667del
XM_017028077.2:c.-36_-34del XP_016883566.1:n.-36_-34del
XM_017028078.2:c.-36_-34del XP_016883567.1:n.-36_-34del
XM_017028079.2:c.-36_-34del XP_016883568.1:n.-36_-34del
XM_024452002.1:c.-36_-34del XP_024307770.1:n.-36_-34del
XR_002958533.1:n.2061_2063del
NM_001324191.2:c.400_402del NP_001311120.1:p.Leu134del
NM_001324193.2:c.-36_-34del NP_001311122.1:n.-36_-34del
NM_024960.6:c.400_402del NP_079236.3:p.Leu134del
NR_136715.2:n.844_846del
NM_001386393.1:c.943_945del MANE Select NP_001373322.1:p.Leu315del
NM_153638.4:c.1273_1275del NP_705902.2:p.Leu425del
NM_153640.4:c.400_402del NP_705904.1:p.Leu134del