Canonical Allele Identifier: CA2695229264

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912481del , CM000682.2:g.3912481del	GRCh38
NC_000020.10:g.3893128del , CM000682.1:g.3893128del	GRCh37
NC_000020.9:g.3841128del	NCBI36
NG_008131.3:g.28643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.929del MANE Select	ENSP00000477429.2:p.Gly310ValfsTer30
ENST00000316562.9:c.1259del	ENSP00000313377.4:p.Gly420ValfsTer30
ENST00000336066.8:c.*270del	ENSP00000477229.2:n.*270del
ENST00000610179.6:c.929del	ENSP00000477429.2:p.Gly310ValfsTer30
ENST00000643504.2:c.*559del	ENSP00000495157.2:n.*559del
ENST00000646394.1:c.756del
ENST00000316562.8:c.1259del	ENSP00000313377.4:p.Gly420ValfsTer30
ENST00000336066.7:c.*270del	ENSP00000477229.1:n.*270del
ENST00000464452.1:n.494del
ENST00000495692.5:c.-50del	ENSP00000476745.1:n.-50del
ENST00000497424.5:c.386del	ENSP00000417609.1:p.Gly129ValfsTer30
ENST00000610179.5:c.890del	ENSP00000477429.1:p.Gly297ValfsTer30
ENST00000621507.1:c.386del	ENSP00000481523.1:p.Gly129ValfsTer30
NM_024960.4:c.386del	NP_079236.3:p.Gly129ValfsTer30
NM_153638.2:c.1259del	NP_705902.2:p.Gly420ValfsTer30
NM_153640.2:c.386del	NP_705904.1:p.Gly129ValfsTer30
XM_005260835.2:c.644del	XP_005260892.1:p.Gly215ValfsTer30
XM_005260836.3:c.386del	XP_005260893.3:p.Gly129ValfsTer30
XM_006723631.1:c.386del	XP_006723694.1:p.Gly129ValfsTer30
XM_011529364.1:c.1235+1651del	XP_011527666.1:n.1235+1651del
NM_001324191.1:c.386del	NP_001311120.1:p.Gly129ValfsTer30
NM_001324193.1:c.-50del	NP_001311122.1:n.-50del
NM_024960.5:c.386del	NP_079236.3:p.Gly129ValfsTer30
NM_153638.3:c.1259del	NP_705902.2:p.Gly420ValfsTer30
NM_153640.3:c.386del	NP_705904.1:p.Gly129ValfsTer30
NR_136715.1:n.1283del
XM_005260835.3:c.644del	XP_005260892.1:p.Gly215ValfsTer30
XM_005260836.4:c.386del	XP_005260893.3:p.Gly129ValfsTer30
XM_011529364.3:c.1235+1651del	XP_011527666.1:n.1235+1651del
XM_017028077.2:c.-50del	XP_016883566.1:n.-50del
XM_017028078.2:c.-50del	XP_016883567.1:n.-50del
XM_017028079.2:c.-50del	XP_016883568.1:n.-50del
XM_024452002.1:c.-50del	XP_024307770.1:n.-50del
XR_002958533.1:n.2047del
NM_001324191.2:c.386del	NP_001311120.1:p.Gly129ValfsTer30
NM_001324193.2:c.-50del	NP_001311122.1:n.-50del
NM_024960.6:c.386del	NP_079236.3:p.Gly129ValfsTer30
NR_136715.2:n.830del
NM_001386393.1:c.929del MANE Select	NP_001373322.1:p.Gly310ValfsTer30
NM_153638.4:c.1259del	NP_705902.2:p.Gly420ValfsTer30
NM_153640.4:c.386del	NP_705904.1:p.Gly129ValfsTer30