Canonical Allele Identifier: CA2683077845
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961067_65961069del , CM000669.2:g.65961067_65961069del GRCh38
NC_000007.13:g.65426054_65426056del , CM000669.1:g.65426054_65426056del GRCh37
NC_000007.12:g.65063489_65063491del NCBI36
NG_016197.1:g.26247_26249del
NG_051954.1:g.92969_92971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1790-5_1790-3del MANE Select ENSP00000302728.4:n.1790-5_1790-3del
ENST00000304895.8:c.1790-5_1790-3del ENSP00000302728.4:n.1790-5_1790-3del
ENST00000421103.5:c.1352-5_1352-3del ENSP00000391390.1:n.1352-5_1352-3del
ENST00000430730.5:c.*1057-5_*1057-3del ENSP00000411859.1:n.*1057-5_*1057-3del
ENST00000447929.5:c.*1170-5_*1170-3del ENSP00000411262.1:n.*1170-5_*1170-3del
ENST00000466883.5:n.2180-5_2180-3del
NM_000181.3:c.1790-5_1790-3del NP_000172.2:n.1790-5_1790-3del
NM_001284290.1:c.1352-5_1352-3del NP_001271219.1:n.1352-5_1352-3del
NM_001293104.1:c.1220-5_1220-3del NP_001280033.1:n.1220-5_1220-3del
NM_001293105.1:c.1133-5_1133-3del NP_001280034.1:n.1133-5_1133-3del
NR_120531.1:n.1836-5_1836-3del
XM_005250297.3:c.1637-5_1637-3del XP_005250354.1:n.1637-5_1637-3del
XM_011516113.1:c.1289-5_1289-3del XP_011514415.1:n.1289-5_1289-3del
XM_011516114.1:c.1118-5_1118-3del XP_011514416.1:n.1118-5_1118-3del
XM_005250297.4:c.1637-5_1637-3del XP_005250354.1:n.1637-5_1637-3del
XM_011516114.2:c.1118-5_1118-3del XP_011514416.1:n.1118-5_1118-3del
XM_017012091.1:c.1136-5_1136-3del XP_016867580.1:n.1136-5_1136-3del
XM_017012092.1:c.1067-5_1067-3del XP_016867581.1:n.1067-5_1067-3del
XM_017012093.2:c.965-5_965-3del XP_016867582.1:n.965-5_965-3del
XR_001744658.2:n.1597-5_1597-3del
XR_001744659.2:n.1710-5_1710-3del
XR_001744660.2:n.1642-5_1642-3del
XR_001744661.2:n.1557-5_1557-3del
XR_927461.3:n.1795-5_1795-3del
NM_000181.4:c.1790-5_1790-3del MANE Select NP_000172.2:n.1790-5_1790-3del
NM_001284290.2:c.1352-5_1352-3del NP_001271219.1:n.1352-5_1352-3del
NM_001293104.2:c.1220-5_1220-3del NP_001280033.1:n.1220-5_1220-3del
NM_001293105.2:c.1133-5_1133-3del NP_001280034.1:n.1133-5_1133-3del
NR_120531.2:n.1735-5_1735-3del