Canonical Allele Identifier: CA744214928

Gene: PANK2

Linked Data

• dbSNP Id: rs1376198540
• MyVariant Identifiers: chr20:g.3888391_3888393del (hg19) ; chr20:g.3907744_3907746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3907745_3907747del , CM000682.2:g.3907745_3907747del	GRCh38
NC_000020.10:g.3888392_3888394del , CM000682.1:g.3888392_3888394del	GRCh37
NC_000020.9:g.3836392_3836394del	NCBI36
NG_008131.3:g.23907_23909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.299-181_299-179del MANE Select	ENSP00000477429.2:n.299-181_299-179del
ENST00000316562.9:c.629-181_629-179del	ENSP00000313377.4:n.629-181_629-179del
ENST00000336066.8:c.299-181_299-179del	ENSP00000477229.2:n.299-181_299-179del
ENST00000610179.6:c.299-181_299-179del	ENSP00000477429.2:n.299-181_299-179del
ENST00000643504.2:c.*72-181_*72-179del	ENSP00000495157.2:n.*72-181_*72-179del
ENST00000646394.1:c.126-181_126-179del
ENST00000316562.8:c.629-181_629-179del	ENSP00000313377.4:n.629-181_629-179del
ENST00000336066.7:c.260-181_260-179del	ENSP00000477229.1:n.260-181_260-179del
ENST00000471830.1:n.173-181_173-179del
ENST00000495692.5:c.-537-181_-537-179del	ENSP00000476745.1:n.-537-181_-537-179del
ENST00000497424.5:c.-245-181_-245-179del	ENSP00000417609.1:n.-245-181_-245-179del
ENST00000610179.5:c.260-181_260-179del	ENSP00000477429.1:n.260-181_260-179del
ENST00000621507.1:c.-245-181_-245-179del	ENSP00000481523.1:n.-245-181_-245-179del
NM_024960.4:c.-245-181_-245-179del	NP_079236.3:n.-245-181_-245-179del
NM_153638.2:c.629-181_629-179del	NP_705902.2:n.629-181_629-179del
NM_153640.2:c.-245-181_-245-179del	NP_705904.1:n.-245-181_-245-179del
XM_005260835.2:c.14-181_14-179del	XP_005260892.1:n.14-181_14-179del
XM_005260836.3:c.-245-181_-245-179del	XP_005260893.3:n.-245-181_-245-179del
XM_006723631.1:c.-245-181_-245-179del	XP_006723694.1:n.-245-181_-245-179del
XM_011529364.1:c.629-181_629-179del	XP_011527666.1:n.629-181_629-179del
XM_011529365.1:c.629-181_629-179del	XP_011527667.1:n.629-181_629-179del
NM_001324191.1:c.-245-181_-245-179del	NP_001311120.1:n.-245-181_-245-179del
NM_001324192.1:c.629-181_629-179del	NP_001311121.1:n.629-181_629-179del
NM_001324193.1:c.-537-181_-537-179del	NP_001311122.1:n.-537-181_-537-179del
NM_024960.5:c.-245-181_-245-179del	NP_079236.3:n.-245-181_-245-179del
NM_153638.3:c.629-181_629-179del	NP_705902.2:n.629-181_629-179del
NM_153640.3:c.-245-181_-245-179del	NP_705904.1:n.-245-181_-245-179del
NR_136715.1:n.796-181_796-179del
XM_005260835.3:c.14-181_14-179del	XP_005260892.1:n.14-181_14-179del
XM_005260836.4:c.-245-181_-245-179del	XP_005260893.3:n.-245-181_-245-179del
XM_011529364.3:c.629-181_629-179del	XP_011527666.1:n.629-181_629-179del
XM_011529365.2:c.629-181_629-179del	XP_011527667.1:n.629-181_629-179del
XM_017028077.2:c.-537-181_-537-179del	XP_016883566.1:n.-537-181_-537-179del
XM_017028078.2:c.-537-181_-537-179del	XP_016883567.1:n.-537-181_-537-179del
XM_017028079.2:c.-537-181_-537-179del	XP_016883568.1:n.-537-181_-537-179del
XM_024452002.1:c.-537-181_-537-179del	XP_024307770.1:n.-537-181_-537-179del
XR_002958533.1:n.790-181_790-179del
NM_001324191.2:c.-245-181_-245-179del	NP_001311120.1:n.-245-181_-245-179del
NM_001324193.2:c.-537-181_-537-179del	NP_001311122.1:n.-537-181_-537-179del
NM_024960.6:c.-245-181_-245-179del	NP_079236.3:n.-245-181_-245-179del
NR_136715.2:n.343-181_343-179del
NM_001386393.1:c.299-181_299-179del MANE Select	NP_001373322.1:n.299-181_299-179del
NM_153638.4:c.629-181_629-179del	NP_705902.2:n.629-181_629-179del
NM_153640.4:c.-245-181_-245-179del	NP_705904.1:n.-245-181_-245-179del