Canonical Allele Identifier: CA2740097363
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 3062297
ClinVar RCV Id: RCV003986019

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961055_65961056del , CM000669.2:g.65961055_65961056del GRCh38
NC_000007.13:g.65426042_65426043del , CM000669.1:g.65426042_65426043del GRCh37
NC_000007.12:g.65063477_65063478del NCBI36
NG_016197.1:g.26262_26263del
NG_051954.1:g.92957_92958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1800_1801del MANE Select ENSP00000302728.4:p.Arg600SerfsTer5
ENST00000304895.8:c.1800_1801del ENSP00000302728.4:p.Arg600SerfsTer5
ENST00000421103.5:c.1362_1363del ENSP00000391390.1:p.Arg454SerfsTer5
ENST00000430730.5:c.*1067_*1068del ENSP00000411859.1:n.*1067_*1068del
ENST00000447929.5:c.*1180_*1181del ENSP00000411262.1:n.*1180_*1181del
ENST00000466883.5:n.2190_2191del
NM_000181.3:c.1800_1801del NP_000172.2:p.Arg600SerfsTer5
NM_001284290.1:c.1362_1363del NP_001271219.1:p.Arg454SerfsTer5
NM_001293104.1:c.1230_1231del NP_001280033.1:p.Arg410SerfsTer5
NM_001293105.1:c.1143_1144del NP_001280034.1:p.Arg381SerfsTer5
NR_120531.1:n.1846_1847del
XM_005250297.3:c.1647_1648del XP_005250354.1:p.Arg549SerfsTer5
XM_011516113.1:c.1299_1300del XP_011514415.1:p.Arg433SerfsTer5
XM_011516114.1:c.1128_1129del XP_011514416.1:p.Arg376SerfsTer5
XM_005250297.4:c.1647_1648del XP_005250354.1:p.Arg549SerfsTer5
XM_011516114.2:c.1128_1129del XP_011514416.1:p.Arg376SerfsTer5
XM_017012091.1:c.1146_1147del XP_016867580.1:p.Arg382SerfsTer5
XM_017012092.1:c.1077_1078del XP_016867581.1:p.Arg359SerfsTer5
XM_017012093.2:c.975_976del XP_016867582.1:p.Arg325SerfsTer5
XR_001744658.2:n.1607_1608del
XR_001744659.2:n.1720_1721del
XR_001744660.2:n.1652_1653del
XR_001744661.2:n.1567_1568del
XR_927461.3:n.1805_1806del
NM_000181.4:c.1800_1801del MANE Select NP_000172.2:p.Arg600SerfsTer5
NM_001284290.2:c.1362_1363del NP_001271219.1:p.Arg454SerfsTer5
NM_001293104.2:c.1230_1231del NP_001280033.1:p.Arg410SerfsTer5
NM_001293105.2:c.1143_1144del NP_001280034.1:p.Arg381SerfsTer5
NR_120531.2:n.1745_1746del