Canonical Allele Identifier: CA2815082493
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912292_3912313del , CM000682.2:g.3912292_3912313del GRCh38
NC_000020.10:g.3892939_3892960del , CM000682.1:g.3892939_3892960del GRCh37
NC_000020.9:g.3840939_3840960del NCBI36
NG_008131.3:g.28454_28475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.906-166_906-145del MANE Select ENSP00000477429.2:n.906-166_906-145del
ENST00000316562.9:c.1236-166_1236-145del ENSP00000313377.4:n.1236-166_1236-145del
ENST00000336066.8:c.*247-166_*247-145del ENSP00000477229.2:n.*247-166_*247-145del
ENST00000610179.6:c.906-166_906-145del ENSP00000477429.2:n.906-166_906-145del
ENST00000643504.2:c.*536-166_*536-145del ENSP00000495157.2:n.*536-166_*536-145del
ENST00000646394.1:c.733-166_733-145del
ENST00000316562.8:c.1236-166_1236-145del ENSP00000313377.4:n.1236-166_1236-145del
ENST00000336066.7:c.*247-166_*247-145del ENSP00000477229.1:n.*247-166_*247-145del
ENST00000464452.1:n.471-166_471-145del
ENST00000495692.5:c.-73-166_-73-145del ENSP00000476745.1:n.-73-166_-73-145del
ENST00000497424.5:c.363-166_363-145del ENSP00000417609.1:n.363-166_363-145del
ENST00000610179.5:c.867-166_867-145del ENSP00000477429.1:n.867-166_867-145del
ENST00000621507.1:c.363-166_363-145del ENSP00000481523.1:n.363-166_363-145del
NM_024960.4:c.363-166_363-145del NP_079236.3:n.363-166_363-145del
NM_153638.2:c.1236-166_1236-145del NP_705902.2:n.1236-166_1236-145del
NM_153640.2:c.363-166_363-145del NP_705904.1:n.363-166_363-145del
XM_005260835.2:c.621-166_621-145del XP_005260892.1:n.621-166_621-145del
XM_005260836.3:c.363-166_363-145del XP_005260893.3:n.363-166_363-145del
XM_006723631.1:c.363-166_363-145del XP_006723694.1:n.363-166_363-145del
XM_011529364.1:c.1235+1462_1235+1483del XP_011527666.1:n.1235+1462_1235+1483del
NM_001324191.1:c.363-166_363-145del NP_001311120.1:n.363-166_363-145del
NM_001324193.1:c.-73-166_-73-145del NP_001311122.1:n.-73-166_-73-145del
NM_024960.5:c.363-166_363-145del NP_079236.3:n.363-166_363-145del
NM_153638.3:c.1236-166_1236-145del NP_705902.2:n.1236-166_1236-145del
NM_153640.3:c.363-166_363-145del NP_705904.1:n.363-166_363-145del
NR_136715.1:n.1260-166_1260-145del
XM_005260835.3:c.621-166_621-145del XP_005260892.1:n.621-166_621-145del
XM_005260836.4:c.363-166_363-145del XP_005260893.3:n.363-166_363-145del
XM_011529364.3:c.1235+1462_1235+1483del XP_011527666.1:n.1235+1462_1235+1483del
XM_017028077.2:c.-73-166_-73-145del XP_016883566.1:n.-73-166_-73-145del
XM_017028078.2:c.-73-166_-73-145del XP_016883567.1:n.-73-166_-73-145del
XM_017028079.2:c.-73-166_-73-145del XP_016883568.1:n.-73-166_-73-145del
XM_024452002.1:c.-73-166_-73-145del XP_024307770.1:n.-73-166_-73-145del
XR_002958533.1:n.2024-166_2024-145del
NM_001324191.2:c.363-166_363-145del NP_001311120.1:n.363-166_363-145del
NM_001324193.2:c.-73-166_-73-145del NP_001311122.1:n.-73-166_-73-145del
NM_024960.6:c.363-166_363-145del NP_079236.3:n.363-166_363-145del
NR_136715.2:n.807-166_807-145del
NM_001386393.1:c.906-166_906-145del MANE Select NP_001373322.1:n.906-166_906-145del
NM_153638.4:c.1236-166_1236-145del NP_705902.2:n.1236-166_1236-145del
NM_153640.4:c.363-166_363-145del NP_705904.1:n.363-166_363-145del