Canonical Allele Identifier: CA9750591

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889605_3889612del , CM000682.2:g.3889605_3889612del	GRCh38
NC_000020.10:g.3870252_3870259del , CM000682.1:g.3870252_3870259del	GRCh37
NC_000020.9:g.3818252_3818259del	NCBI36
NG_008131.3:g.5767_5774del

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.175_182del MANE Select	NP_001373322.1:p.Ser59GlyfsTer9
ENST00000610179.7:c.175_182del MANE Select	ENSP00000477429.2:p.Ser59GlyfsTer9
NM_001324191.1:c.-537_-530del	NP_001311120.1:n.-537_-530del
NM_001324191.2:c.-537_-530del	NP_001311120.1:n.-537_-530del
NM_001324192.1:c.505_512del	NP_001311121.1:p.Ser169GlyfsTer9
NM_024960.4:c.-246+701_-246+708del	NP_079236.3:n.-246+701_-246+708del
NM_024960.5:c.-246+701_-246+708del	NP_079236.3:n.-246+701_-246+708del
NM_024960.6:c.-246+701_-246+708del	NP_079236.3:n.-246+701_-246+708del
NM_153638.2:c.505_512del	NP_705902.2:p.Ser169GlyfsTer9
NM_153638.3:c.505_512del	NP_705902.2:p.Ser169GlyfsTer9
NM_153638.4:c.505_512del	NP_705902.2:p.Ser169GlyfsTer9
NR_136715.1:n.672_679del
NR_136715.2:n.219_226del
ENST00000316562.8:c.505_512del	ENSP00000313377.4:p.Ser169GlyfsTer9
ENST00000316562.9:c.505_512del	ENSP00000313377.4:p.Ser169GlyfsTer9
ENST00000336066.7:c.136_143del	ENSP00000477229.1:p.Ser46GlyfsTer9
ENST00000336066.8:c.175_182del	ENSP00000477229.2:p.Ser59GlyfsTer9
ENST00000495692.5:c.-538+589_-538+596del	ENSP00000476745.1:n.-538+589_-538+596del
ENST00000497424.5:c.-246+701_-246+708del	ENSP00000417609.1:n.-246+701_-246+708del
ENST00000610179.5:c.136_143del	ENSP00000477429.1:p.Ser46GlyfsTer9
ENST00000610179.6:c.175_182del	ENSP00000477429.2:p.Ser59GlyfsTer9
ENST00000643504.2:c.175_182del	ENSP00000495157.2:p.Ser59GlyfsTer9
XM_005260836.3:c.-246+589_-246+596del	XP_005260893.3:n.-246+589_-246+596del
XM_005260836.4:c.-246+589_-246+596del	XP_005260893.3:n.-246+589_-246+596del
XM_011529364.1:c.505_512del	XP_011527666.1:p.Ser169GlyfsTer9
XM_011529364.3:c.505_512del	XP_011527666.1:p.Ser169GlyfsTer9
XM_011529365.1:c.505_512del	XP_011527667.1:p.Ser169GlyfsTer9
XM_011529365.2:c.505_512del	XP_011527667.1:p.Ser169GlyfsTer9
XM_017028079.2:c.-538+589_-538+596del	XP_016883568.1:n.-538+589_-538+596del
XM_024452002.1:c.-538+701_-538+708del	XP_024307770.1:n.-538+701_-538+708del
XR_002958533.1:n.666_673del