Canonical Allele Identifier: CA645565505
Gene: GUSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982051_65982067del , CM000669.2:g.65982051_65982067del GRCh38
NC_000007.13:g.65447038_65447054del , CM000669.1:g.65447038_65447054del GRCh37
NC_000007.12:g.65084473_65084489del NCBI36
NG_016197.1:g.5254_5270del

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.123_139del MANE Select ENSP00000302728.4:p.Asp42ProfsTer6
ENST00000304895.8:c.123_139del ENSP00000302728.4:p.Asp42ProfsTer6
ENST00000421103.5:c.123_139del ENSP00000391390.1:p.Asp42ProfsTer6
ENST00000430730.5:c.123_139del ENSP00000411859.1:p.Asp42ProfsTer6
ENST00000446111.1:c.123_139del ENSP00000416793.1:p.Asp42ProfsTer6
ENST00000447929.5:c.123_139del ENSP00000411262.1:p.Asp42ProfsTer6
ENST00000475316.5:n.28_44del
NM_000181.3:c.123_139del NP_000172.2:p.Asp42ProfsTer6
NM_001284290.1:c.123_139del NP_001271219.1:p.Asp42ProfsTer6
NM_001293104.1:c.-263_-247del NP_001280033.1:p.=
NM_001293105.1:c.-207_-191del NP_001280034.1:p.=
NR_120531.1:n.254_270del
XM_005250297.3:c.123_139del XP_005250354.1:p.Asp42ProfsTer6
XM_011516113.1:c.-207_-191del XP_011514415.1:p.=
XR_927461.1:n.249_265del
XM_005250297.4:c.123_139del XP_005250354.1:p.Asp42ProfsTer6
XM_011516114.2:c.-563_-547del XP_011514416.1:p.=
XM_017012091.1:c.-207_-191del XP_016867580.1:p.=
XM_017012092.1:c.-263_-247del XP_016867581.1:p.=
XM_017012093.2:c.-563_-547del XP_016867582.1:p.=
XR_001744658.2:n.168_184del
XR_001744659.2:n.168_184del
XR_001744660.2:n.168_184del
XR_001744661.2:n.168_184del
XR_927461.3:n.168_184del
NM_000181.4:c.123_139del MANE Select NP_000172.2:p.Asp42ProfsTer6
NM_001284290.2:c.123_139del NP_001271219.1:p.Asp42ProfsTer6
NM_001293104.2:c.-263_-247del NP_001280033.1:p.=
NM_001293105.2:c.-207_-191del NP_001280034.1:p.=
NR_120531.2:n.153_169del