Canonical Allele Identifier: CA2651766246

Gene: PANK2

Linked Data

• gnomAD v4: 20-3908010-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908013_3908014del , CM000682.2:g.3908013_3908014del	GRCh38
NC_000020.10:g.3888660_3888661del , CM000682.1:g.3888660_3888661del	GRCh37
NC_000020.9:g.3836660_3836661del	NCBI36
NG_008131.3:g.24175_24176del

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.386_387del MANE Select	ENSP00000477429.2:p.Glu129GlyfsTer7
ENST00000316562.9:c.716_717del	ENSP00000313377.4:p.Glu239GlyfsTer7
ENST00000336066.8:c.386_387del	ENSP00000477229.2:p.Glu129GlyfsTer7
ENST00000610179.6:c.386_387del	ENSP00000477429.2:p.Glu129GlyfsTer7
ENST00000643504.2:c.*159_*160del	ENSP00000495157.2:n.*159_*160del
ENST00000646394.1:c.213_214del
ENST00000316562.8:c.716_717del	ENSP00000313377.4:p.Glu239GlyfsTer7
ENST00000336066.7:c.347_348del	ENSP00000477229.1:p.Glu116GlyfsTer7
ENST00000471830.1:n.260_261del
ENST00000495692.5:c.-450_-449del	ENSP00000476745.1:n.-450_-449del
ENST00000497424.5:c.-158_-157del	ENSP00000417609.1:n.-158_-157del
ENST00000610179.5:c.347_348del	ENSP00000477429.1:p.Glu116GlyfsTer7
ENST00000621507.1:c.-158_-157del	ENSP00000481523.1:n.-158_-157del
NM_024960.4:c.-158_-157del	NP_079236.3:n.-158_-157del
NM_153638.2:c.716_717del	NP_705902.2:p.Glu239GlyfsTer7
NM_153640.2:c.-158_-157del	NP_705904.1:n.-158_-157del
XM_005260835.2:c.101_102del	XP_005260892.1:p.Glu34GlyfsTer7
XM_005260836.3:c.-158_-157del	XP_005260893.3:n.-158_-157del
XM_006723631.1:c.-158_-157del	XP_006723694.1:n.-158_-157del
XM_011529364.1:c.716_717del	XP_011527666.1:p.Glu239GlyfsTer7
XM_011529365.1:c.716_717del	XP_011527667.1:p.Glu239GlyfsTer7
NM_001324191.1:c.-158_-157del	NP_001311120.1:n.-158_-157del
NM_001324192.1:c.716_717del	NP_001311121.1:p.Glu239GlyfsTer7
NM_001324193.1:c.-450_-449del	NP_001311122.1:n.-450_-449del
NM_024960.5:c.-158_-157del	NP_079236.3:n.-158_-157del
NM_153638.3:c.716_717del	NP_705902.2:p.Glu239GlyfsTer7
NM_153640.3:c.-158_-157del	NP_705904.1:n.-158_-157del
NR_136715.1:n.883_884del
XM_005260835.3:c.101_102del	XP_005260892.1:p.Glu34GlyfsTer7
XM_005260836.4:c.-158_-157del	XP_005260893.3:n.-158_-157del
XM_011529364.3:c.716_717del	XP_011527666.1:p.Glu239GlyfsTer7
XM_011529365.2:c.716_717del	XP_011527667.1:p.Glu239GlyfsTer7
XM_017028077.2:c.-450_-449del	XP_016883566.1:n.-450_-449del
XM_017028078.2:c.-450_-449del	XP_016883567.1:n.-450_-449del
XM_017028079.2:c.-450_-449del	XP_016883568.1:n.-450_-449del
XM_024452002.1:c.-450_-449del	XP_024307770.1:n.-450_-449del
XR_002958533.1:n.877_878del
NM_001324191.2:c.-158_-157del	NP_001311120.1:n.-158_-157del
NM_001324193.2:c.-450_-449del	NP_001311122.1:n.-450_-449del
NM_024960.6:c.-158_-157del	NP_079236.3:n.-158_-157del
NR_136715.2:n.430_431del
NM_001386393.1:c.386_387del MANE Select	NP_001373322.1:p.Glu129GlyfsTer7
NM_153638.4:c.716_717del	NP_705902.2:p.Glu239GlyfsTer7
NM_153640.4:c.-158_-157del	NP_705904.1:n.-158_-157del