Canonical Allele Identifier: CA9750781
Community Standard Title: NM_001386393.1(PANK2):c.846_847del (p.Val284Ter)
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3910771_3910772del , CM000682.2:g.3910771_3910772del GRCh38
NC_000020.10:g.3891418_3891419del , CM000682.1:g.3891418_3891419del GRCh37
NC_000020.9:g.3839418_3839419del NCBI36
NG_008131.3:g.26933_26934del

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.846_847del MANE Select NP_001373322.1:p.Val284Ter
ENST00000610179.7:c.846_847del MANE Select ENSP00000477429.2:p.Val284Ter
NM_001324191.1:c.303_304del NP_001311120.1:p.Val103Ter
NM_001324191.2:c.303_304del NP_001311120.1:p.Val103Ter
NM_001324193.1:c.-133_-132del NP_001311122.1:n.-133_-132del
NM_001324193.2:c.-133_-132del NP_001311122.1:n.-133_-132del
NM_024960.4:c.303_304del NP_079236.3:p.Val103Ter
NM_024960.5:c.303_304del NP_079236.3:p.Val103Ter
NM_024960.6:c.303_304del NP_079236.3:p.Val103Ter
NM_153638.2:c.1176_1177del NP_705902.2:p.Val394Ter
NM_153638.3:c.1176_1177del NP_705902.2:p.Val394Ter
NM_153638.4:c.1176_1177del NP_705902.2:p.Val394Ter
NM_153640.2:c.303_304del NP_705904.1:p.Val103Ter
NM_153640.3:c.303_304del NP_705904.1:p.Val103Ter
NM_153640.4:c.303_304del NP_705904.1:p.Val103Ter
NR_136715.1:n.1200_1201del
NR_136715.2:n.747_748del
ENST00000316562.8:c.1176_1177del ENSP00000313377.4:p.Val394Ter
ENST00000316562.9:c.1176_1177del ENSP00000313377.4:p.Val394Ter
ENST00000336066.7:c.*187_*188del ENSP00000477229.1:n.*187_*188del
ENST00000336066.8:c.*187_*188del ENSP00000477229.2:n.*187_*188del
ENST00000464452.1:n.411_412del
ENST00000471830.1:n.577_578del
ENST00000495692.5:c.-133_-132del ENSP00000476745.1:n.-133_-132del
ENST00000497424.5:c.303_304del ENSP00000417609.1:p.Val103Ter
ENST00000610179.5:c.807_808del ENSP00000477429.1:p.Val271Ter
ENST00000610179.6:c.846_847del ENSP00000477429.2:p.Val284Ter
ENST00000621507.1:c.303_304del ENSP00000481523.1:p.Val103Ter
ENST00000643504.2:c.*476_*477del ENSP00000495157.2:n.*476_*477del
ENST00000646394.1:c.673_674del
XM_005260835.2:c.561_562del XP_005260892.1:p.Val189Ter
XM_005260835.3:c.561_562del XP_005260892.1:p.Val189Ter
XM_005260836.3:c.303_304del XP_005260893.3:p.Val103Ter
XM_005260836.4:c.303_304del XP_005260893.3:p.Val103Ter
XM_006723631.1:c.303_304del XP_006723694.1:p.Val103Ter
XM_011529364.1:c.1176_1177del XP_011527666.1:p.Val394Ter
XM_011529364.3:c.1176_1177del XP_011527666.1:p.Val394Ter
XM_017028077.2:c.-133_-132del XP_016883566.1:n.-133_-132del
XM_017028078.2:c.-133_-132del XP_016883567.1:n.-133_-132del
XM_017028079.2:c.-133_-132del XP_016883568.1:n.-133_-132del
XM_024452002.1:c.-133_-132del XP_024307770.1:n.-133_-132del
XR_002958533.1:n.1964_1965del