Canonical Allele Identifier: CA2651766226

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2994215
• ClinVar RCV Id: RCV003855854
• gnomAD v4: 20-3907996-CACTGCTGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3907998_3908007del , CM000682.2:g.3907998_3908007del	GRCh38
NC_000020.10:g.3888645_3888654del , CM000682.1:g.3888645_3888654del	GRCh37
NC_000020.9:g.3836645_3836654del	NCBI36
NG_008131.3:g.24160_24169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.371_380del MANE Select	ENSP00000477429.2:p.Thr124LysfsTer16
ENST00000316562.9:c.701_710del	ENSP00000313377.4:p.Thr234LysfsTer16
ENST00000336066.8:c.371_380del	ENSP00000477229.2:p.Thr124LysfsTer16
ENST00000610179.6:c.371_380del	ENSP00000477429.2:p.Thr124LysfsTer16
ENST00000643504.2:c.*144_*153del	ENSP00000495157.2:n.*144_*153del
ENST00000646394.1:c.198_207del
ENST00000316562.8:c.701_710del	ENSP00000313377.4:p.Thr234LysfsTer16
ENST00000336066.7:c.332_341del	ENSP00000477229.1:p.Thr111LysfsTer16
ENST00000471830.1:n.245_254del
ENST00000495692.5:c.-465_-456del	ENSP00000476745.1:n.-465_-456del
ENST00000497424.5:c.-173_-164del	ENSP00000417609.1:n.-173_-164del
ENST00000610179.5:c.332_341del	ENSP00000477429.1:p.Thr111LysfsTer16
ENST00000621507.1:c.-173_-164del	ENSP00000481523.1:n.-173_-164del
NM_024960.4:c.-173_-164del	NP_079236.3:n.-173_-164del
NM_153638.2:c.701_710del	NP_705902.2:p.Thr234LysfsTer16
NM_153640.2:c.-173_-164del	NP_705904.1:n.-173_-164del
XM_005260835.2:c.86_95del	XP_005260892.1:p.Thr29LysfsTer16
XM_005260836.3:c.-173_-164del	XP_005260893.3:n.-173_-164del
XM_006723631.1:c.-173_-164del	XP_006723694.1:n.-173_-164del
XM_011529364.1:c.701_710del	XP_011527666.1:p.Thr234LysfsTer16
XM_011529365.1:c.701_710del	XP_011527667.1:p.Thr234LysfsTer16
NM_001324191.1:c.-173_-164del	NP_001311120.1:n.-173_-164del
NM_001324192.1:c.701_710del	NP_001311121.1:p.Thr234LysfsTer16
NM_001324193.1:c.-465_-456del	NP_001311122.1:n.-465_-456del
NM_024960.5:c.-173_-164del	NP_079236.3:n.-173_-164del
NM_153638.3:c.701_710del	NP_705902.2:p.Thr234LysfsTer16
NM_153640.3:c.-173_-164del	NP_705904.1:n.-173_-164del
NR_136715.1:n.868_877del
XM_005260835.3:c.86_95del	XP_005260892.1:p.Thr29LysfsTer16
XM_005260836.4:c.-173_-164del	XP_005260893.3:n.-173_-164del
XM_011529364.3:c.701_710del	XP_011527666.1:p.Thr234LysfsTer16
XM_011529365.2:c.701_710del	XP_011527667.1:p.Thr234LysfsTer16
XM_017028077.2:c.-465_-456del	XP_016883566.1:n.-465_-456del
XM_017028078.2:c.-465_-456del	XP_016883567.1:n.-465_-456del
XM_017028079.2:c.-465_-456del	XP_016883568.1:n.-465_-456del
XM_024452002.1:c.-465_-456del	XP_024307770.1:n.-465_-456del
XR_002958533.1:n.862_871del
NM_001324191.2:c.-173_-164del	NP_001311120.1:n.-173_-164del
NM_001324193.2:c.-465_-456del	NP_001311122.1:n.-465_-456del
NM_024960.6:c.-173_-164del	NP_079236.3:n.-173_-164del
NR_136715.2:n.415_424del
NM_001386393.1:c.371_380del MANE Select	NP_001373322.1:p.Thr124LysfsTer16
NM_153638.4:c.701_710del	NP_705902.2:p.Thr234LysfsTer16
NM_153640.4:c.-173_-164del	NP_705904.1:n.-173_-164del