Canonical Allele Identifier: CA2580098011

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2434575
• ClinVar RCV Id: RCV003131876

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912582_3912607delinsATGGAGCC , CM000682.2:g.3912582_3912607delinsATGGAGCC	GRCh38
NC_000020.10:g.3893229_3893254delinsATGGAGCC , CM000682.1:g.3893229_3893254delinsATGGAGCC	GRCh37
NC_000020.9:g.3841229_3841254delinsATGGAGCC	NCBI36
NG_008131.3:g.28744_28769delinsATGGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1030_1055delinsATGGAGCC MANE Select	ENSP00000477429.2:p.Tyr344_Gly352delinsMetGluPro
ENST00000316562.9:c.1360_1385delinsATGGAGCC	ENSP00000313377.4:p.Tyr454_Gly462delinsMetGluPro
ENST00000336066.8:c.*371_*396delinsATGGAGCC	ENSP00000477229.2:n.*371_*396delinsATGGAGCC
ENST00000610179.6:c.1030_1055delinsATGGAGCC	ENSP00000477429.2:p.Tyr344_Gly352delinsMetGluPro
ENST00000643504.2:c.*660_*685delinsATGGAGCC	ENSP00000495157.2:n.*660_*685delinsATGGAGCC
ENST00000646394.1:c.857_882delinsATGGAGCC
ENST00000316562.8:c.1360_1385delinsATGGAGCC	ENSP00000313377.4:p.Tyr454_Gly462delinsMetGluPro
ENST00000336066.7:c.*371_*396delinsATGGAGCC	ENSP00000477229.1:n.*371_*396delinsATGGAGCC
ENST00000464452.1:n.595_620delinsATGGAGCC
ENST00000495692.5:c.52_77delinsATGGAGCC	ENSP00000476745.1:p.Tyr18_Gly26delinsMetGluPro
ENST00000497424.5:c.487_512delinsATGGAGCC	ENSP00000417609.1:p.Tyr163_Gly171delinsMetGluPro
ENST00000610179.5:c.991_1016delinsATGGAGCC	ENSP00000477429.1:p.Tyr331_Gly339delinsMetGluPro
ENST00000621507.1:c.487_512delinsATGGAGCC	ENSP00000481523.1:p.Tyr163_Gly171delinsMetGluPro
NM_024960.4:c.487_512delinsATGGAGCC	NP_079236.3:p.Tyr163_Gly171delinsMetGluPro
NM_153638.2:c.1360_1385delinsATGGAGCC	NP_705902.2:p.Tyr454_Gly462delinsMetGluPro
NM_153640.2:c.487_512delinsATGGAGCC	NP_705904.1:p.Tyr163_Gly171delinsMetGluPro
XM_005260835.2:c.745_770delinsATGGAGCC	XP_005260892.1:p.Tyr249_Gly257delinsMetGluPro
XM_005260836.3:c.487_512delinsATGGAGCC	XP_005260893.3:p.Tyr163_Gly171delinsMetGluPro
XM_006723631.1:c.487_512delinsATGGAGCC	XP_006723694.1:p.Tyr163_Gly171delinsMetGluPro
XM_011529364.1:c.1235+1752_1235+1777delinsATGGAGCC	XP_011527666.1:n.1235+1752_1235+1777delinsATGGAGCC
NM_001324191.1:c.487_512delinsATGGAGCC	NP_001311120.1:p.Tyr163_Gly171delinsMetGluPro
NM_001324193.1:c.52_77delinsATGGAGCC	NP_001311122.1:p.Tyr18_Gly26delinsMetGluPro
NM_024960.5:c.487_512delinsATGGAGCC	NP_079236.3:p.Tyr163_Gly171delinsMetGluPro
NM_153638.3:c.1360_1385delinsATGGAGCC	NP_705902.2:p.Tyr454_Gly462delinsMetGluPro
NM_153640.3:c.487_512delinsATGGAGCC	NP_705904.1:p.Tyr163_Gly171delinsMetGluPro
NR_136715.1:n.1384_1409delinsATGGAGCC
XM_005260835.3:c.745_770delinsATGGAGCC	XP_005260892.1:p.Tyr249_Gly257delinsMetGluPro
XM_005260836.4:c.487_512delinsATGGAGCC	XP_005260893.3:p.Tyr163_Gly171delinsMetGluPro
XM_011529364.3:c.1235+1752_1235+1777delinsATGGAGCC	XP_011527666.1:n.1235+1752_1235+1777delinsATGGAGCC
XM_017028077.2:c.52_77delinsATGGAGCC	XP_016883566.1:p.Tyr18_Gly26delinsMetGluPro
XM_017028078.2:c.52_77delinsATGGAGCC	XP_016883567.1:p.Tyr18_Gly26delinsMetGluPro
XM_017028079.2:c.52_77delinsATGGAGCC	XP_016883568.1:p.Tyr18_Gly26delinsMetGluPro
XM_024452002.1:c.52_77delinsATGGAGCC	XP_024307770.1:p.Tyr18_Gly26delinsMetGluPro
XR_002958533.1:n.2148_2173delinsATGGAGCC
NM_001324191.2:c.487_512delinsATGGAGCC	NP_001311120.1:p.Tyr163_Gly171delinsMetGluPro
NM_001324193.2:c.52_77delinsATGGAGCC	NP_001311122.1:p.Tyr18_Gly26delinsMetGluPro
NM_024960.6:c.487_512delinsATGGAGCC	NP_079236.3:p.Tyr163_Gly171delinsMetGluPro
NR_136715.2:n.931_956delinsATGGAGCC
NM_001386393.1:c.1030_1055delinsATGGAGCC MANE Select	NP_001373322.1:p.Tyr344_Gly352delinsMetGluPro
NM_153638.4:c.1360_1385delinsATGGAGCC	NP_705902.2:p.Tyr454_Gly462delinsMetGluPro
NM_153640.4:c.487_512delinsATGGAGCC	NP_705904.1:p.Tyr163_Gly171delinsMetGluPro