Canonical Allele Identifier: CA2683077835
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961039_65961040del , CM000669.2:g.65961039_65961040del GRCh38
NC_000007.13:g.65426026_65426027del , CM000669.1:g.65426026_65426027del GRCh37
NC_000007.12:g.65063461_65063462del NCBI36
NG_016197.1:g.26278_26279del
NG_051954.1:g.92941_92942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1816_1817del MANE Select ENSP00000302728.4:p.Lys606GlyfsTer26
ENST00000304895.8:c.1816_1817del ENSP00000302728.4:p.Lys606GlyfsTer26
ENST00000421103.5:c.1378_1379del ENSP00000391390.1:p.Lys460GlyfsTer26
ENST00000430730.5:c.*1083_*1084del ENSP00000411859.1:n.*1083_*1084del
ENST00000447929.5:c.*1196_*1197del ENSP00000411262.1:n.*1196_*1197del
ENST00000466883.5:n.2206_2207del
NM_000181.3:c.1816_1817del NP_000172.2:p.Lys606GlyfsTer26
NM_001284290.1:c.1378_1379del NP_001271219.1:p.Lys460GlyfsTer26
NM_001293104.1:c.1246_1247del NP_001280033.1:p.Lys416GlyfsTer26
NM_001293105.1:c.1159_1160del NP_001280034.1:p.Lys387GlyfsTer26
NR_120531.1:n.1862_1863del
XM_005250297.3:c.1663_1664del XP_005250354.1:p.Lys555GlyfsTer26
XM_011516113.1:c.1315_1316del XP_011514415.1:p.Lys439GlyfsTer26
XM_011516114.1:c.1144_1145del XP_011514416.1:p.Lys382GlyfsTer26
XM_005250297.4:c.1663_1664del XP_005250354.1:p.Lys555GlyfsTer26
XM_011516114.2:c.1144_1145del XP_011514416.1:p.Lys382GlyfsTer26
XM_017012091.1:c.1162_1163del XP_016867580.1:p.Lys388GlyfsTer26
XM_017012092.1:c.1093_1094del XP_016867581.1:p.Lys365GlyfsTer26
XM_017012093.2:c.991_992del XP_016867582.1:p.Lys331GlyfsTer26
XR_001744658.2:n.1623_1624del
XR_001744659.2:n.1736_1737del
XR_001744660.2:n.1668_1669del
XR_001744661.2:n.1583_1584del
XR_927461.3:n.1821_1822del
NM_000181.4:c.1816_1817del MANE Select NP_000172.2:p.Lys606GlyfsTer26
NM_001284290.2:c.1378_1379del NP_001271219.1:p.Lys460GlyfsTer26
NM_001293104.2:c.1246_1247del NP_001280033.1:p.Lys416GlyfsTer26
NM_001293105.2:c.1159_1160del NP_001280034.1:p.Lys387GlyfsTer26
NR_120531.2:n.1761_1762del