Canonical Allele Identifier: CA634331165

Gene: PANK2

Linked Data

• dbSNP Id: rs1201972249
• gnomAD v2: 20-3893234-A-AG
• gnomAD v4: 20-3912587-A-AG
• MyVariant Identifiers: chr20:g.3893234_3893235insG (hg19) ; chr20:g.3912587_3912588insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912591dup , CM000682.2:g.3912591dup	GRCh38
NC_000020.10:g.3893238dup , CM000682.1:g.3893238dup	GRCh37
NC_000020.9:g.3841238dup	NCBI36
NG_008131.3:g.28753dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1039dup MANE Select	ENSP00000477429.2:p.Asp347GlyfsTer3
ENST00000316562.9:c.1369dup	ENSP00000313377.4:p.Asp457GlyfsTer3
ENST00000336066.8:c.*380dup	ENSP00000477229.2:n.*380dup
ENST00000610179.6:c.1039dup	ENSP00000477429.2:p.Asp347GlyfsTer3
ENST00000643504.2:c.*669dup	ENSP00000495157.2:n.*669dup
ENST00000646394.1:c.866dup
ENST00000316562.8:c.1369dup	ENSP00000313377.4:p.Asp457GlyfsTer3
ENST00000336066.7:c.*380dup	ENSP00000477229.1:n.*380dup
ENST00000464452.1:n.604dup
ENST00000495692.5:c.61dup	ENSP00000476745.1:p.Asp21GlyfsTer3
ENST00000497424.5:c.496dup	ENSP00000417609.1:p.Asp166GlyfsTer3
ENST00000610179.5:c.1000dup	ENSP00000477429.1:p.Asp334GlyfsTer3
ENST00000621507.1:c.496dup	ENSP00000481523.1:p.Asp166GlyfsTer3
NM_024960.4:c.496dup	NP_079236.3:p.Asp166GlyfsTer3
NM_153638.2:c.1369dup	NP_705902.2:p.Asp457GlyfsTer3
NM_153640.2:c.496dup	NP_705904.1:p.Asp166GlyfsTer3
XM_005260835.2:c.754dup	XP_005260892.1:p.Asp252GlyfsTer3
XM_005260836.3:c.496dup	XP_005260893.3:p.Asp166GlyfsTer3
XM_006723631.1:c.496dup	XP_006723694.1:p.Asp166GlyfsTer3
XM_011529364.1:c.1235+1761dup	XP_011527666.1:n.1235+1761dup
NM_001324191.1:c.496dup	NP_001311120.1:p.Asp166GlyfsTer3
NM_001324193.1:c.61dup	NP_001311122.1:p.Asp21GlyfsTer3
NM_024960.5:c.496dup	NP_079236.3:p.Asp166GlyfsTer3
NM_153638.3:c.1369dup	NP_705902.2:p.Asp457GlyfsTer3
NM_153640.3:c.496dup	NP_705904.1:p.Asp166GlyfsTer3
NR_136715.1:n.1393dup
XM_005260835.3:c.754dup	XP_005260892.1:p.Asp252GlyfsTer3
XM_005260836.4:c.496dup	XP_005260893.3:p.Asp166GlyfsTer3
XM_011529364.3:c.1235+1761dup	XP_011527666.1:n.1235+1761dup
XM_017028077.2:c.61dup	XP_016883566.1:p.Asp21GlyfsTer3
XM_017028078.2:c.61dup	XP_016883567.1:p.Asp21GlyfsTer3
XM_017028079.2:c.61dup	XP_016883568.1:p.Asp21GlyfsTer3
XM_024452002.1:c.61dup	XP_024307770.1:p.Asp21GlyfsTer3
XR_002958533.1:n.2157dup
NM_001324191.2:c.496dup	NP_001311120.1:p.Asp166GlyfsTer3
NM_001324193.2:c.61dup	NP_001311122.1:p.Asp21GlyfsTer3
NM_024960.6:c.496dup	NP_079236.3:p.Asp166GlyfsTer3
NR_136715.2:n.940dup
NM_001386393.1:c.1039dup MANE Select	NP_001373322.1:p.Asp347GlyfsTer3
NM_153638.4:c.1369dup	NP_705902.2:p.Asp457GlyfsTer3
NM_153640.4:c.496dup	NP_705904.1:p.Asp166GlyfsTer3