Canonical Allele Identifier: CA2651766239

Gene: PANK2

Linked Data

• gnomAD v4: 20-3908002-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908011_3908013dup , CM000682.2:g.3908011_3908013dup	GRCh38
NC_000020.10:g.3888658_3888660dup , CM000682.1:g.3888658_3888660dup	GRCh37
NC_000020.9:g.3836658_3836660dup	NCBI36
NG_008131.3:g.24173_24175dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.384_386dup MANE Select	ENSP00000477429.2:p.Glu129_Glu130insGlu
ENST00000316562.9:c.714_716dup	ENSP00000313377.4:p.Glu239_Glu240insGlu
ENST00000336066.8:c.384_386dup	ENSP00000477229.2:p.Glu129_Glu130insGlu
ENST00000610179.6:c.384_386dup	ENSP00000477429.2:p.Glu129_Glu130insGlu
ENST00000643504.2:c.*157_*159dup	ENSP00000495157.2:n.*157_*159dup
ENST00000646394.1:c.211_213dup
ENST00000316562.8:c.714_716dup	ENSP00000313377.4:p.Glu239_Glu240insGlu
ENST00000336066.7:c.345_347dup	ENSP00000477229.1:p.Glu116_Glu117insGlu
ENST00000471830.1:n.258_260dup
ENST00000495692.5:c.-452_-450dup	ENSP00000476745.1:n.-452_-450dup
ENST00000497424.5:c.-160_-158dup	ENSP00000417609.1:n.-160_-158dup
ENST00000610179.5:c.345_347dup	ENSP00000477429.1:p.Glu116_Glu117insGlu
ENST00000621507.1:c.-160_-158dup	ENSP00000481523.1:n.-160_-158dup
NM_024960.4:c.-160_-158dup	NP_079236.3:n.-160_-158dup
NM_153638.2:c.714_716dup	NP_705902.2:p.Glu239_Glu240insGlu
NM_153640.2:c.-160_-158dup	NP_705904.1:n.-160_-158dup
XM_005260835.2:c.99_101dup	XP_005260892.1:p.Glu34_Glu35insGlu
XM_005260836.3:c.-160_-158dup	XP_005260893.3:n.-160_-158dup
XM_006723631.1:c.-160_-158dup	XP_006723694.1:n.-160_-158dup
XM_011529364.1:c.714_716dup	XP_011527666.1:p.Glu239_Glu240insGlu
XM_011529365.1:c.714_716dup	XP_011527667.1:p.Glu239_Glu240insGlu
NM_001324191.1:c.-160_-158dup	NP_001311120.1:n.-160_-158dup
NM_001324192.1:c.714_716dup	NP_001311121.1:p.Glu239_Glu240insGlu
NM_001324193.1:c.-452_-450dup	NP_001311122.1:n.-452_-450dup
NM_024960.5:c.-160_-158dup	NP_079236.3:n.-160_-158dup
NM_153638.3:c.714_716dup	NP_705902.2:p.Glu239_Glu240insGlu
NM_153640.3:c.-160_-158dup	NP_705904.1:n.-160_-158dup
NR_136715.1:n.881_883dup
XM_005260835.3:c.99_101dup	XP_005260892.1:p.Glu34_Glu35insGlu
XM_005260836.4:c.-160_-158dup	XP_005260893.3:n.-160_-158dup
XM_011529364.3:c.714_716dup	XP_011527666.1:p.Glu239_Glu240insGlu
XM_011529365.2:c.714_716dup	XP_011527667.1:p.Glu239_Glu240insGlu
XM_017028077.2:c.-452_-450dup	XP_016883566.1:n.-452_-450dup
XM_017028078.2:c.-452_-450dup	XP_016883567.1:n.-452_-450dup
XM_017028079.2:c.-452_-450dup	XP_016883568.1:n.-452_-450dup
XM_024452002.1:c.-452_-450dup	XP_024307770.1:n.-452_-450dup
XR_002958533.1:n.875_877dup
NM_001324191.2:c.-160_-158dup	NP_001311120.1:n.-160_-158dup
NM_001324193.2:c.-452_-450dup	NP_001311122.1:n.-452_-450dup
NM_024960.6:c.-160_-158dup	NP_079236.3:n.-160_-158dup
NR_136715.2:n.428_430dup
NM_001386393.1:c.384_386dup MANE Select	NP_001373322.1:p.Glu129_Glu130insGlu
NM_153638.4:c.714_716dup	NP_705902.2:p.Glu239_Glu240insGlu
NM_153640.4:c.-160_-158dup	NP_705904.1:n.-160_-158dup