Canonical Allele Identifier: CA2573157129

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1363985
• ClinVar RCV Id: RCV001905178
• dbSNP Id: rs2146887806

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916930del , CM000682.2:g.3916930del	GRCh38
NC_000020.10:g.3897577del , CM000682.1:g.3897577del	GRCh37
NC_000020.9:g.3845577del	NCBI36
NG_008131.3:g.33092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1086del MANE Select	ENSP00000477429.2:p.Phe362LeufsTer4
ENST00000316562.9:c.1416del	ENSP00000313377.4:p.Phe472LeufsTer4
ENST00000336066.8:c.*427del	ENSP00000477229.2:n.*427del
ENST00000610179.6:c.1086del	ENSP00000477429.2:p.Phe362LeufsTer4
ENST00000643504.2:c.*716del	ENSP00000495157.2:n.*716del
ENST00000646394.1:c.913del
ENST00000316562.8:c.1416del	ENSP00000313377.4:p.Phe472LeufsTer4
ENST00000336066.7:c.*427del	ENSP00000477229.1:n.*427del
ENST00000464452.1:n.651del
ENST00000495692.5:c.108del	ENSP00000476745.1:p.Phe36LeufsTer4
ENST00000497424.5:c.543del	ENSP00000417609.1:p.Phe181LeufsTer4
ENST00000610179.5:c.1047del	ENSP00000477429.1:p.Phe349LeufsTer4
ENST00000621507.1:c.543del	ENSP00000481523.1:p.Phe181LeufsTer4
NM_024960.4:c.543del	NP_079236.3:p.Phe181LeufsTer4
NM_153638.2:c.1416del	NP_705902.2:p.Phe472LeufsTer4
NM_153640.2:c.543del	NP_705904.1:p.Phe181LeufsTer4
XM_005260835.2:c.801del	XP_005260892.1:p.Phe267LeufsTer4
XM_005260836.3:c.543del	XP_005260893.3:p.Phe181LeufsTer4
XM_006723631.1:c.543del	XP_006723694.1:p.Phe181LeufsTer4
XM_011529364.1:c.1239del	XP_011527666.1:p.Phe413LeufsTer4
NM_001324191.1:c.543del	NP_001311120.1:p.Phe181LeufsTer4
NM_001324193.1:c.108del	NP_001311122.1:p.Phe36LeufsTer4
NM_024960.5:c.543del	NP_079236.3:p.Phe181LeufsTer4
NM_153638.3:c.1416del	NP_705902.2:p.Phe472LeufsTer4
NM_153640.3:c.543del	NP_705904.1:p.Phe181LeufsTer4
NR_136715.1:n.1440del
XM_005260835.3:c.801del	XP_005260892.1:p.Phe267LeufsTer4
XM_005260836.4:c.543del	XP_005260893.3:p.Phe181LeufsTer4
XM_011529364.3:c.1239del	XP_011527666.1:p.Phe413LeufsTer4
XM_017028077.2:c.108del	XP_016883566.1:p.Phe36LeufsTer4
XM_017028078.2:c.108del	XP_016883567.1:p.Phe36LeufsTer4
XM_017028079.2:c.108del	XP_016883568.1:p.Phe36LeufsTer4
XM_024452002.1:c.108del	XP_024307770.1:p.Phe36LeufsTer4
XR_002958533.1:n.2204del
NM_001324191.2:c.543del	NP_001311120.1:p.Phe181LeufsTer4
NM_001324193.2:c.108del	NP_001311122.1:p.Phe36LeufsTer4
NM_024960.6:c.543del	NP_079236.3:p.Phe181LeufsTer4
NR_136715.2:n.987del
NM_001386393.1:c.1086del MANE Select	NP_001373322.1:p.Phe362LeufsTer4
NM_153638.4:c.1416del	NP_705902.2:p.Phe472LeufsTer4
NM_153640.4:c.543del	NP_705904.1:p.Phe181LeufsTer4