Canonical Allele Identifier: CA2346797827
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912490_3912493delinsGTCT , CM000682.2:g.3912490_3912493delinsGTCT GRCh38
NC_000020.10:g.3893137_3893140delinsGTCT , CM000682.1:g.3893137_3893140delinsGTCT GRCh37
NC_000020.9:g.3841137_3841140delinsGTCT NCBI36
NG_008131.3:g.28652_28655delinsGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.938_941delinsGTCT MANE Select ENSP00000477429.2:p.Cys313=
ENST00000316562.9:c.1268_1271delinsGTCT ENSP00000313377.4:p.Cys423=
ENST00000336066.8:c.*279_*282delinsGTCT ENSP00000477229.2:n.*279_*282delinsGTCT
ENST00000610179.6:c.938_941delinsGTCT ENSP00000477429.2:p.Cys313=
ENST00000643504.2:c.*568_*571delinsGTCT ENSP00000495157.2:n.*568_*571delinsGTCT
ENST00000646394.1:c.765_768delinsGTCT
ENST00000316562.8:c.1268_1271delinsGTCT ENSP00000313377.4:p.Cys423=
ENST00000336066.7:c.*279_*282delinsGTCT ENSP00000477229.1:n.*279_*282delinsGTCT
ENST00000464452.1:n.503_506delinsGTCT
ENST00000495692.5:c.-41_-38delinsGTCT ENSP00000476745.1:n.-41_-38delinsGTCT
ENST00000497424.5:c.395_398delinsGTCT ENSP00000417609.1:p.Cys132=
ENST00000610179.5:c.899_902delinsGTCT ENSP00000477429.1:p.Cys300=
ENST00000621507.1:c.395_398delinsGTCT ENSP00000481523.1:p.Cys132=
NM_024960.4:c.395_398delinsGTCT NP_079236.3:p.Cys132=
NM_153638.2:c.1268_1271delinsGTCT NP_705902.2:p.Cys423=
NM_153640.2:c.395_398delinsGTCT NP_705904.1:p.Cys132=
XM_005260835.2:c.653_656delinsGTCT XP_005260892.1:p.Cys218=
XM_005260836.3:c.395_398delinsGTCT XP_005260893.3:p.Cys132=
XM_006723631.1:c.395_398delinsGTCT XP_006723694.1:p.Cys132=
XM_011529364.1:c.1235+1660_1235+1663delinsGTCT XP_011527666.1:n.1235+1660_1235+1663delinsGTCT
NM_001324191.1:c.395_398delinsGTCT NP_001311120.1:p.Cys132=
NM_001324193.1:c.-41_-38delinsGTCT NP_001311122.1:n.-41_-38delinsGTCT
NM_024960.5:c.395_398delinsGTCT NP_079236.3:p.Cys132=
NM_153638.3:c.1268_1271delinsGTCT NP_705902.2:p.Cys423=
NM_153640.3:c.395_398delinsGTCT NP_705904.1:p.Cys132=
NR_136715.1:n.1292_1295delinsGTCT
XM_005260835.3:c.653_656delinsGTCT XP_005260892.1:p.Cys218=
XM_005260836.4:c.395_398delinsGTCT XP_005260893.3:p.Cys132=
XM_011529364.3:c.1235+1660_1235+1663delinsGTCT XP_011527666.1:n.1235+1660_1235+1663delinsGTCT
XM_017028077.2:c.-41_-38delinsGTCT XP_016883566.1:n.-41_-38delinsGTCT
XM_017028078.2:c.-41_-38delinsGTCT XP_016883567.1:n.-41_-38delinsGTCT
XM_017028079.2:c.-41_-38delinsGTCT XP_016883568.1:n.-41_-38delinsGTCT
XM_024452002.1:c.-41_-38delinsGTCT XP_024307770.1:n.-41_-38delinsGTCT
XR_002958533.1:n.2056_2059delinsGTCT
NM_001324191.2:c.395_398delinsGTCT NP_001311120.1:p.Cys132=
NM_001324193.2:c.-41_-38delinsGTCT NP_001311122.1:n.-41_-38delinsGTCT
NM_024960.6:c.395_398delinsGTCT NP_079236.3:p.Cys132=
NR_136715.2:n.839_842delinsGTCT
NM_001386393.1:c.938_941delinsGTCT MANE Select NP_001373322.1:p.Cys313=
NM_153638.4:c.1268_1271delinsGTCT NP_705902.2:p.Cys423=
NM_153640.4:c.395_398delinsGTCT NP_705904.1:p.Cys132=