Canonical Allele Identifier: CA920154372

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2040871
• ClinVar RCV Id: RCV002912757
• dbSNP Id: rs1568574849
• gnomAD v3: 20-3912435-GTGT-G
• gnomAD v4: 20-3912435-GTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912437_3912439del , CM000682.2:g.3912437_3912439del	GRCh38
NC_000020.10:g.3893084_3893086del , CM000682.1:g.3893084_3893086del	GRCh37
NC_000020.9:g.3841084_3841086del	NCBI36
NG_008131.3:g.28599_28601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.906-21_906-19del MANE Select	ENSP00000477429.2:n.906-21_906-19del
ENST00000316562.9:c.1236-21_1236-19del	ENSP00000313377.4:n.1236-21_1236-19del
ENST00000336066.8:c.*247-21_*247-19del	ENSP00000477229.2:n.*247-21_*247-19del
ENST00000610179.6:c.906-21_906-19del	ENSP00000477429.2:n.906-21_906-19del
ENST00000643504.2:c.*536-21_*536-19del	ENSP00000495157.2:n.*536-21_*536-19del
ENST00000646394.1:c.733-21_733-19del
ENST00000316562.8:c.1236-21_1236-19del	ENSP00000313377.4:n.1236-21_1236-19del
ENST00000336066.7:c.*247-21_*247-19del	ENSP00000477229.1:n.*247-21_*247-19del
ENST00000464452.1:n.471-21_471-19del
ENST00000495692.5:c.-73-21_-73-19del	ENSP00000476745.1:n.-73-21_-73-19del
ENST00000497424.5:c.363-21_363-19del	ENSP00000417609.1:n.363-21_363-19del
ENST00000610179.5:c.867-21_867-19del	ENSP00000477429.1:n.867-21_867-19del
ENST00000621507.1:c.363-21_363-19del	ENSP00000481523.1:n.363-21_363-19del
NM_024960.4:c.363-21_363-19del	NP_079236.3:n.363-21_363-19del
NM_153638.2:c.1236-21_1236-19del	NP_705902.2:n.1236-21_1236-19del
NM_153640.2:c.363-21_363-19del	NP_705904.1:n.363-21_363-19del
XM_005260835.2:c.621-21_621-19del	XP_005260892.1:n.621-21_621-19del
XM_005260836.3:c.363-21_363-19del	XP_005260893.3:n.363-21_363-19del
XM_006723631.1:c.363-21_363-19del	XP_006723694.1:n.363-21_363-19del
XM_011529364.1:c.1235+1607_1235+1609del	XP_011527666.1:n.1235+1607_1235+1609del
NM_001324191.1:c.363-21_363-19del	NP_001311120.1:n.363-21_363-19del
NM_001324193.1:c.-73-21_-73-19del	NP_001311122.1:n.-73-21_-73-19del
NM_024960.5:c.363-21_363-19del	NP_079236.3:n.363-21_363-19del
NM_153638.3:c.1236-21_1236-19del	NP_705902.2:n.1236-21_1236-19del
NM_153640.3:c.363-21_363-19del	NP_705904.1:n.363-21_363-19del
NR_136715.1:n.1260-21_1260-19del
XM_005260835.3:c.621-21_621-19del	XP_005260892.1:n.621-21_621-19del
XM_005260836.4:c.363-21_363-19del	XP_005260893.3:n.363-21_363-19del
XM_011529364.3:c.1235+1607_1235+1609del	XP_011527666.1:n.1235+1607_1235+1609del
XM_017028077.2:c.-73-21_-73-19del	XP_016883566.1:n.-73-21_-73-19del
XM_017028078.2:c.-73-21_-73-19del	XP_016883567.1:n.-73-21_-73-19del
XM_017028079.2:c.-73-21_-73-19del	XP_016883568.1:n.-73-21_-73-19del
XM_024452002.1:c.-73-21_-73-19del	XP_024307770.1:n.-73-21_-73-19del
XR_002958533.1:n.2024-21_2024-19del
NM_001324191.2:c.363-21_363-19del	NP_001311120.1:n.363-21_363-19del
NM_001324193.2:c.-73-21_-73-19del	NP_001311122.1:n.-73-21_-73-19del
NM_024960.6:c.363-21_363-19del	NP_079236.3:n.363-21_363-19del
NR_136715.2:n.807-21_807-19del
NM_001386393.1:c.906-21_906-19del MANE Select	NP_001373322.1:n.906-21_906-19del
NM_153638.4:c.1236-21_1236-19del	NP_705902.2:n.1236-21_1236-19del
NM_153640.4:c.363-21_363-19del	NP_705904.1:n.363-21_363-19del