Canonical Allele Identifier: CA9750680

Gene: PANK2

Linked Data

• dbSNP Id: rs761711868
• ExAC: 20:3888649 TGAAGAA / T
• gnomAD v2: 20-3888649-TGAAGAA-T
• gnomAD v4: 20-3908002-TGAAGAA-T
• MyVariant Identifiers: chr20:g.3888650_3888655del (hg19) ; chr20:g.3908003_3908008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908008_3908013del , CM000682.2:g.3908008_3908013del	GRCh38
NC_000020.10:g.3888655_3888660del , CM000682.1:g.3888655_3888660del	GRCh37
NC_000020.9:g.3836655_3836660del	NCBI36
NG_008131.3:g.24170_24175del

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.381_386del MANE Select	ENSP00000477429.2:p.Glu128_Glu129del
ENST00000316562.9:c.711_716del	ENSP00000313377.4:p.Glu238_Glu239del
ENST00000336066.8:c.381_386del	ENSP00000477229.2:p.Glu128_Glu129del
ENST00000610179.6:c.381_386del	ENSP00000477429.2:p.Glu128_Glu129del
ENST00000643504.2:c.*154_*159del	ENSP00000495157.2:n.*154_*159del
ENST00000646394.1:c.208_213del
ENST00000316562.8:c.711_716del	ENSP00000313377.4:p.Glu238_Glu239del
ENST00000336066.7:c.342_347del	ENSP00000477229.1:p.Glu115_Glu116del
ENST00000471830.1:n.255_260del
ENST00000495692.5:c.-455_-450del	ENSP00000476745.1:n.-455_-450del
ENST00000497424.5:c.-163_-158del	ENSP00000417609.1:n.-163_-158del
ENST00000610179.5:c.342_347del	ENSP00000477429.1:p.Glu115_Glu116del
ENST00000621507.1:c.-163_-158del	ENSP00000481523.1:n.-163_-158del
NM_024960.4:c.-163_-158del	NP_079236.3:n.-163_-158del
NM_153638.2:c.711_716del	NP_705902.2:p.Glu238_Glu239del
NM_153640.2:c.-163_-158del	NP_705904.1:n.-163_-158del
XM_005260835.2:c.96_101del	XP_005260892.1:p.Glu33_Glu34del
XM_005260836.3:c.-163_-158del	XP_005260893.3:n.-163_-158del
XM_006723631.1:c.-163_-158del	XP_006723694.1:n.-163_-158del
XM_011529364.1:c.711_716del	XP_011527666.1:p.Glu238_Glu239del
XM_011529365.1:c.711_716del	XP_011527667.1:p.Glu238_Glu239del
NM_001324191.1:c.-163_-158del	NP_001311120.1:n.-163_-158del
NM_001324192.1:c.711_716del	NP_001311121.1:p.Glu238_Glu239del
NM_001324193.1:c.-455_-450del	NP_001311122.1:n.-455_-450del
NM_024960.5:c.-163_-158del	NP_079236.3:n.-163_-158del
NM_153638.3:c.711_716del	NP_705902.2:p.Glu238_Glu239del
NM_153640.3:c.-163_-158del	NP_705904.1:n.-163_-158del
NR_136715.1:n.878_883del
XM_005260835.3:c.96_101del	XP_005260892.1:p.Glu33_Glu34del
XM_005260836.4:c.-163_-158del	XP_005260893.3:n.-163_-158del
XM_011529364.3:c.711_716del	XP_011527666.1:p.Glu238_Glu239del
XM_011529365.2:c.711_716del	XP_011527667.1:p.Glu238_Glu239del
XM_017028077.2:c.-455_-450del	XP_016883566.1:n.-455_-450del
XM_017028078.2:c.-455_-450del	XP_016883567.1:n.-455_-450del
XM_017028079.2:c.-455_-450del	XP_016883568.1:n.-455_-450del
XM_024452002.1:c.-455_-450del	XP_024307770.1:n.-455_-450del
XR_002958533.1:n.872_877del
NM_001324191.2:c.-163_-158del	NP_001311120.1:n.-163_-158del
NM_001324193.2:c.-455_-450del	NP_001311122.1:n.-455_-450del
NM_024960.6:c.-163_-158del	NP_079236.3:n.-163_-158del
NR_136715.2:n.425_430del
NM_001386393.1:c.381_386del MANE Select	NP_001373322.1:p.Glu128_Glu129del
NM_153638.4:c.711_716del	NP_705902.2:p.Glu238_Glu239del
NM_153640.4:c.-163_-158del	NP_705904.1:n.-163_-158del