Canonical Allele Identifier: CA2346797744
Gene: PANK2 HGNC NCBI

Linked Data

dbSNP Id: rs1827838903

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912322_3912323del , CM000682.2:g.3912322_3912323del GRCh38
NC_000020.10:g.3892969_3892970del , CM000682.1:g.3892969_3892970del GRCh37
NC_000020.9:g.3840969_3840970del NCBI36
NG_008131.3:g.28484_28485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.906-136_906-135del MANE Select ENSP00000477429.2:n.906-136_906-135del
ENST00000316562.9:c.1236-136_1236-135del ENSP00000313377.4:n.1236-136_1236-135del
ENST00000336066.8:c.*247-136_*247-135del ENSP00000477229.2:n.*247-136_*247-135del
ENST00000610179.6:c.906-136_906-135del ENSP00000477429.2:n.906-136_906-135del
ENST00000643504.2:c.*536-136_*536-135del ENSP00000495157.2:n.*536-136_*536-135del
ENST00000646394.1:c.733-136_733-135del
ENST00000316562.8:c.1236-136_1236-135del ENSP00000313377.4:n.1236-136_1236-135del
ENST00000336066.7:c.*247-136_*247-135del ENSP00000477229.1:n.*247-136_*247-135del
ENST00000464452.1:n.471-136_471-135del
ENST00000495692.5:c.-73-136_-73-135del ENSP00000476745.1:n.-73-136_-73-135del
ENST00000497424.5:c.363-136_363-135del ENSP00000417609.1:n.363-136_363-135del
ENST00000610179.5:c.867-136_867-135del ENSP00000477429.1:n.867-136_867-135del
ENST00000621507.1:c.363-136_363-135del ENSP00000481523.1:n.363-136_363-135del
NM_024960.4:c.363-136_363-135del NP_079236.3:n.363-136_363-135del
NM_153638.2:c.1236-136_1236-135del NP_705902.2:n.1236-136_1236-135del
NM_153640.2:c.363-136_363-135del NP_705904.1:n.363-136_363-135del
XM_005260835.2:c.621-136_621-135del XP_005260892.1:n.621-136_621-135del
XM_005260836.3:c.363-136_363-135del XP_005260893.3:n.363-136_363-135del
XM_006723631.1:c.363-136_363-135del XP_006723694.1:n.363-136_363-135del
XM_011529364.1:c.1235+1492_1235+1493del XP_011527666.1:n.1235+1492_1235+1493del
NM_001324191.1:c.363-136_363-135del NP_001311120.1:n.363-136_363-135del
NM_001324193.1:c.-73-136_-73-135del NP_001311122.1:n.-73-136_-73-135del
NM_024960.5:c.363-136_363-135del NP_079236.3:n.363-136_363-135del
NM_153638.3:c.1236-136_1236-135del NP_705902.2:n.1236-136_1236-135del
NM_153640.3:c.363-136_363-135del NP_705904.1:n.363-136_363-135del
NR_136715.1:n.1260-136_1260-135del
XM_005260835.3:c.621-136_621-135del XP_005260892.1:n.621-136_621-135del
XM_005260836.4:c.363-136_363-135del XP_005260893.3:n.363-136_363-135del
XM_011529364.3:c.1235+1492_1235+1493del XP_011527666.1:n.1235+1492_1235+1493del
XM_017028077.2:c.-73-136_-73-135del XP_016883566.1:n.-73-136_-73-135del
XM_017028078.2:c.-73-136_-73-135del XP_016883567.1:n.-73-136_-73-135del
XM_017028079.2:c.-73-136_-73-135del XP_016883568.1:n.-73-136_-73-135del
XM_024452002.1:c.-73-136_-73-135del XP_024307770.1:n.-73-136_-73-135del
XR_002958533.1:n.2024-136_2024-135del
NM_001324191.2:c.363-136_363-135del NP_001311120.1:n.363-136_363-135del
NM_001324193.2:c.-73-136_-73-135del NP_001311122.1:n.-73-136_-73-135del
NM_024960.6:c.363-136_363-135del NP_079236.3:n.363-136_363-135del
NR_136715.2:n.807-136_807-135del
NM_001386393.1:c.906-136_906-135del MANE Select NP_001373322.1:n.906-136_906-135del
NM_153638.4:c.1236-136_1236-135del NP_705902.2:n.1236-136_1236-135del
NM_153640.4:c.363-136_363-135del NP_705904.1:n.363-136_363-135del