Canonical Allele Identifier: CA2815082497
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912403_3912404del , CM000682.2:g.3912403_3912404del GRCh38
NC_000020.10:g.3893050_3893051del , CM000682.1:g.3893050_3893051del GRCh37
NC_000020.9:g.3841050_3841051del NCBI36
NG_008131.3:g.28565_28566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.906-55_906-54del MANE Select ENSP00000477429.2:n.906-55_906-54del
ENST00000316562.9:c.1236-55_1236-54del ENSP00000313377.4:n.1236-55_1236-54del
ENST00000336066.8:c.*247-55_*247-54del ENSP00000477229.2:n.*247-55_*247-54del
ENST00000610179.6:c.906-55_906-54del ENSP00000477429.2:n.906-55_906-54del
ENST00000643504.2:c.*536-55_*536-54del ENSP00000495157.2:n.*536-55_*536-54del
ENST00000646394.1:c.733-55_733-54del
ENST00000316562.8:c.1236-55_1236-54del ENSP00000313377.4:n.1236-55_1236-54del
ENST00000336066.7:c.*247-55_*247-54del ENSP00000477229.1:n.*247-55_*247-54del
ENST00000464452.1:n.471-55_471-54del
ENST00000495692.5:c.-73-55_-73-54del ENSP00000476745.1:n.-73-55_-73-54del
ENST00000497424.5:c.363-55_363-54del ENSP00000417609.1:n.363-55_363-54del
ENST00000610179.5:c.867-55_867-54del ENSP00000477429.1:n.867-55_867-54del
ENST00000621507.1:c.363-55_363-54del ENSP00000481523.1:n.363-55_363-54del
NM_024960.4:c.363-55_363-54del NP_079236.3:n.363-55_363-54del
NM_153638.2:c.1236-55_1236-54del NP_705902.2:n.1236-55_1236-54del
NM_153640.2:c.363-55_363-54del NP_705904.1:n.363-55_363-54del
XM_005260835.2:c.621-55_621-54del XP_005260892.1:n.621-55_621-54del
XM_005260836.3:c.363-55_363-54del XP_005260893.3:n.363-55_363-54del
XM_006723631.1:c.363-55_363-54del XP_006723694.1:n.363-55_363-54del
XM_011529364.1:c.1235+1573_1235+1574del XP_011527666.1:n.1235+1573_1235+1574del
NM_001324191.1:c.363-55_363-54del NP_001311120.1:n.363-55_363-54del
NM_001324193.1:c.-73-55_-73-54del NP_001311122.1:n.-73-55_-73-54del
NM_024960.5:c.363-55_363-54del NP_079236.3:n.363-55_363-54del
NM_153638.3:c.1236-55_1236-54del NP_705902.2:n.1236-55_1236-54del
NM_153640.3:c.363-55_363-54del NP_705904.1:n.363-55_363-54del
NR_136715.1:n.1260-55_1260-54del
XM_005260835.3:c.621-55_621-54del XP_005260892.1:n.621-55_621-54del
XM_005260836.4:c.363-55_363-54del XP_005260893.3:n.363-55_363-54del
XM_011529364.3:c.1235+1573_1235+1574del XP_011527666.1:n.1235+1573_1235+1574del
XM_017028077.2:c.-73-55_-73-54del XP_016883566.1:n.-73-55_-73-54del
XM_017028078.2:c.-73-55_-73-54del XP_016883567.1:n.-73-55_-73-54del
XM_017028079.2:c.-73-55_-73-54del XP_016883568.1:n.-73-55_-73-54del
XM_024452002.1:c.-73-55_-73-54del XP_024307770.1:n.-73-55_-73-54del
XR_002958533.1:n.2024-55_2024-54del
NM_001324191.2:c.363-55_363-54del NP_001311120.1:n.363-55_363-54del
NM_001324193.2:c.-73-55_-73-54del NP_001311122.1:n.-73-55_-73-54del
NM_024960.6:c.363-55_363-54del NP_079236.3:n.363-55_363-54del
NR_136715.2:n.807-55_807-54del
NM_001386393.1:c.906-55_906-54del MANE Select NP_001373322.1:n.906-55_906-54del
NM_153638.4:c.1236-55_1236-54del NP_705902.2:n.1236-55_1236-54del
NM_153640.4:c.363-55_363-54del NP_705904.1:n.363-55_363-54del