Canonical Allele Identifier: CA2695229266

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912547_3912550del , CM000682.2:g.3912547_3912550del	GRCh38
NC_000020.10:g.3893194_3893197del , CM000682.1:g.3893194_3893197del	GRCh37
NC_000020.9:g.3841194_3841197del	NCBI36
NG_008131.3:g.28709_28712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.995_998del MANE Select	ENSP00000477429.2:p.Asp332AlafsTer7
ENST00000316562.9:c.1325_1328del	ENSP00000313377.4:p.Asp442AlafsTer7
ENST00000336066.8:c.*336_*339del	ENSP00000477229.2:n.*336_*339del
ENST00000610179.6:c.995_998del	ENSP00000477429.2:p.Asp332AlafsTer7
ENST00000643504.2:c.*625_*628del	ENSP00000495157.2:n.*625_*628del
ENST00000646394.1:c.822_825del
ENST00000316562.8:c.1325_1328del	ENSP00000313377.4:p.Asp442AlafsTer7
ENST00000336066.7:c.*336_*339del	ENSP00000477229.1:n.*336_*339del
ENST00000464452.1:n.560_563del
ENST00000495692.5:c.17_20del	ENSP00000476745.1:p.Asp6AlafsTer7
ENST00000497424.5:c.452_455del	ENSP00000417609.1:p.Asp151AlafsTer7
ENST00000610179.5:c.956_959del	ENSP00000477429.1:p.Asp319AlafsTer7
ENST00000621507.1:c.452_455del	ENSP00000481523.1:p.Asp151AlafsTer7
NM_024960.4:c.452_455del	NP_079236.3:p.Asp151AlafsTer7
NM_153638.2:c.1325_1328del	NP_705902.2:p.Asp442AlafsTer7
NM_153640.2:c.452_455del	NP_705904.1:p.Asp151AlafsTer7
XM_005260835.2:c.710_713del	XP_005260892.1:p.Asp237AlafsTer7
XM_005260836.3:c.452_455del	XP_005260893.3:p.Asp151AlafsTer7
XM_006723631.1:c.452_455del	XP_006723694.1:p.Asp151AlafsTer7
XM_011529364.1:c.1235+1717_1235+1720del	XP_011527666.1:n.1235+1717_1235+1720del
NM_001324191.1:c.452_455del	NP_001311120.1:p.Asp151AlafsTer7
NM_001324193.1:c.17_20del	NP_001311122.1:p.Asp6AlafsTer7
NM_024960.5:c.452_455del	NP_079236.3:p.Asp151AlafsTer7
NM_153638.3:c.1325_1328del	NP_705902.2:p.Asp442AlafsTer7
NM_153640.3:c.452_455del	NP_705904.1:p.Asp151AlafsTer7
NR_136715.1:n.1349_1352del
XM_005260835.3:c.710_713del	XP_005260892.1:p.Asp237AlafsTer7
XM_005260836.4:c.452_455del	XP_005260893.3:p.Asp151AlafsTer7
XM_011529364.3:c.1235+1717_1235+1720del	XP_011527666.1:n.1235+1717_1235+1720del
XM_017028077.2:c.17_20del	XP_016883566.1:p.Asp6AlafsTer7
XM_017028078.2:c.17_20del	XP_016883567.1:p.Asp6AlafsTer7
XM_017028079.2:c.17_20del	XP_016883568.1:p.Asp6AlafsTer7
XM_024452002.1:c.17_20del	XP_024307770.1:p.Asp6AlafsTer7
XR_002958533.1:n.2113_2116del
NM_001324191.2:c.452_455del	NP_001311120.1:p.Asp151AlafsTer7
NM_001324193.2:c.17_20del	NP_001311122.1:p.Asp6AlafsTer7
NM_024960.6:c.452_455del	NP_079236.3:p.Asp151AlafsTer7
NR_136715.2:n.896_899del
NM_001386393.1:c.995_998del MANE Select	NP_001373322.1:p.Asp332AlafsTer7
NM_153638.4:c.1325_1328del	NP_705902.2:p.Asp442AlafsTer7
NM_153640.4:c.452_455del	NP_705904.1:p.Asp151AlafsTer7