Canonical Allele Identifier: CA2739277047

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2833658
• ClinVar RCV Id: RCV003613067

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912501_3912513del , CM000682.2:g.3912501_3912513del	GRCh38
NC_000020.10:g.3893148_3893160del , CM000682.1:g.3893148_3893160del	GRCh37
NC_000020.9:g.3841148_3841160del	NCBI36
NG_008131.3:g.28663_28675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.949_961del MANE Select	ENSP00000477429.2:p.Gly317LeufsTer19
ENST00000316562.9:c.1279_1291del	ENSP00000313377.4:p.Gly427LeufsTer19
ENST00000336066.8:c.*290_*302del	ENSP00000477229.2:n.*290_*302del
ENST00000610179.6:c.949_961del	ENSP00000477429.2:p.Gly317LeufsTer19
ENST00000643504.2:c.*579_*591del	ENSP00000495157.2:n.*579_*591del
ENST00000646394.1:c.776_788del
ENST00000316562.8:c.1279_1291del	ENSP00000313377.4:p.Gly427LeufsTer19
ENST00000336066.7:c.*290_*302del	ENSP00000477229.1:n.*290_*302del
ENST00000464452.1:n.514_526del
ENST00000495692.5:c.-30_-18del	ENSP00000476745.1:n.-30_-18del
ENST00000497424.5:c.406_418del	ENSP00000417609.1:p.Gly136LeufsTer19
ENST00000610179.5:c.910_922del	ENSP00000477429.1:p.Gly304LeufsTer19
ENST00000621507.1:c.406_418del	ENSP00000481523.1:p.Gly136LeufsTer19
NM_024960.4:c.406_418del	NP_079236.3:p.Gly136LeufsTer19
NM_153638.2:c.1279_1291del	NP_705902.2:p.Gly427LeufsTer19
NM_153640.2:c.406_418del	NP_705904.1:p.Gly136LeufsTer19
XM_005260835.2:c.664_676del	XP_005260892.1:p.Gly222LeufsTer19
XM_005260836.3:c.406_418del	XP_005260893.3:p.Gly136LeufsTer19
XM_006723631.1:c.406_418del	XP_006723694.1:p.Gly136LeufsTer19
XM_011529364.1:c.1235+1671_1235+1683del	XP_011527666.1:n.1235+1671_1235+1683del
NM_001324191.1:c.406_418del	NP_001311120.1:p.Gly136LeufsTer19
NM_001324193.1:c.-30_-18del	NP_001311122.1:n.-30_-18del
NM_024960.5:c.406_418del	NP_079236.3:p.Gly136LeufsTer19
NM_153638.3:c.1279_1291del	NP_705902.2:p.Gly427LeufsTer19
NM_153640.3:c.406_418del	NP_705904.1:p.Gly136LeufsTer19
NR_136715.1:n.1303_1315del
XM_005260835.3:c.664_676del	XP_005260892.1:p.Gly222LeufsTer19
XM_005260836.4:c.406_418del	XP_005260893.3:p.Gly136LeufsTer19
XM_011529364.3:c.1235+1671_1235+1683del	XP_011527666.1:n.1235+1671_1235+1683del
XM_017028077.2:c.-30_-18del	XP_016883566.1:n.-30_-18del
XM_017028078.2:c.-30_-18del	XP_016883567.1:n.-30_-18del
XM_017028079.2:c.-30_-18del	XP_016883568.1:n.-30_-18del
XM_024452002.1:c.-30_-18del	XP_024307770.1:n.-30_-18del
XR_002958533.1:n.2067_2079del
NM_001324191.2:c.406_418del	NP_001311120.1:p.Gly136LeufsTer19
NM_001324193.2:c.-30_-18del	NP_001311122.1:n.-30_-18del
NM_024960.6:c.406_418del	NP_079236.3:p.Gly136LeufsTer19
NR_136715.2:n.850_862del
NM_001386393.1:c.949_961del MANE Select	NP_001373322.1:p.Gly317LeufsTer19
NM_153638.4:c.1279_1291del	NP_705902.2:p.Gly427LeufsTer19
NM_153640.4:c.406_418del	NP_705904.1:p.Gly136LeufsTer19