Canonical Allele Identifier: CA915952645

Gene: PANK2

Linked Data

• ClinVar Variation Id: 642965
• ClinVar RCV Id: RCV000796539
• dbSNP Id: rs1600474748
• gnomAD v4: 20-3889225-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889226del , CM000682.2:g.3889226del	GRCh38
NC_000020.10:g.3869873del , CM000682.1:g.3869873del	GRCh37
NC_000020.9:g.3817873del	NCBI36
NG_008131.3:g.5388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.126del	ENSP00000313377.4:p.Arg44ValfsTer?
ENST00000316562.8:c.126del	ENSP00000313377.4:p.Arg44ValfsTer?
ENST00000495692.5:c.-538+210del	ENSP00000476745.1:n.-538+210del
ENST00000497424.5:c.-246+322del	ENSP00000417609.1:n.-246+322del
NM_024960.4:c.-246+322del	NP_079236.3:n.-246+322del
NM_153638.2:c.126del	NP_705902.2:p.Arg44ValfsTer?
XM_005260836.3:c.-246+210del	XP_005260893.3:n.-246+210del
XM_011529364.1:c.126del	XP_011527666.1:p.Arg44ValfsTer?
XM_011529365.1:c.126del	XP_011527667.1:p.Arg44ValfsTer?
NM_001324191.1:c.-916del	NP_001311120.1:n.-916del
NM_001324192.1:c.126del	NP_001311121.1:p.Arg44ValfsTer?
NM_024960.5:c.-246+322del	NP_079236.3:n.-246+322del
NM_153638.3:c.126del	NP_705902.2:p.Arg44ValfsTer?
NR_136715.1:n.293del
XM_005260836.4:c.-246+210del	XP_005260893.3:n.-246+210del
XM_011529364.3:c.126del	XP_011527666.1:p.Arg44ValfsTer?
XM_011529365.2:c.126del	XP_011527667.1:p.Arg44ValfsTer?
XM_017028079.2:c.-538+210del	XP_016883568.1:n.-538+210del
XM_024452002.1:c.-538+322del	XP_024307770.1:n.-538+322del
XR_002958533.1:n.287del
NM_024960.6:c.-246+322del	NP_079236.3:n.-246+322del
NM_153638.4:c.126del	NP_705902.2:p.Arg44ValfsTer?