Canonical Allele Identifier: CA2683077839

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961058-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961059del , CM000669.2:g.65961059del	GRCh38
NC_000007.13:g.65426046del , CM000669.1:g.65426046del	GRCh37
NC_000007.12:g.65063481del	NCBI36
NG_016197.1:g.26256del
NG_051954.1:g.92961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1794del MANE Select	ENSP00000302728.4:p.Thr599ArgfsTer?
ENST00000304895.8:c.1794del	ENSP00000302728.4:p.Thr599ArgfsTer?
ENST00000421103.5:c.1356del	ENSP00000391390.1:p.Thr453ArgfsTer?
ENST00000430730.5:c.*1061del	ENSP00000411859.1:n.*1061del
ENST00000447929.5:c.*1174del	ENSP00000411262.1:n.*1174del
ENST00000466883.5:n.2184del
NM_000181.3:c.1794del	NP_000172.2:p.Thr599ArgfsTer?
NM_001284290.1:c.1356del	NP_001271219.1:p.Thr453ArgfsTer?
NM_001293104.1:c.1224del	NP_001280033.1:p.Thr409ArgfsTer?
NM_001293105.1:c.1137del	NP_001280034.1:p.Thr380ArgfsTer?
NR_120531.1:n.1840del
XM_005250297.3:c.1641del	XP_005250354.1:p.Thr548ArgfsTer?
XM_011516113.1:c.1293del	XP_011514415.1:p.Thr432ArgfsTer?
XM_011516114.1:c.1122del	XP_011514416.1:p.Thr375ArgfsTer?
XM_005250297.4:c.1641del	XP_005250354.1:p.Thr548ArgfsTer?
XM_011516114.2:c.1122del	XP_011514416.1:p.Thr375ArgfsTer?
XM_017012091.1:c.1140del	XP_016867580.1:p.Thr381ArgfsTer?
XM_017012092.1:c.1071del	XP_016867581.1:p.Thr358ArgfsTer?
XM_017012093.2:c.969del	XP_016867582.1:p.Thr324ArgfsTer?
XR_001744658.2:n.1601del
XR_001744659.2:n.1714del
XR_001744660.2:n.1646del
XR_001744661.2:n.1561del
XR_927461.3:n.1799del
NM_000181.4:c.1794del MANE Select	NP_000172.2:p.Thr599ArgfsTer?
NM_001284290.2:c.1356del	NP_001271219.1:p.Thr453ArgfsTer?
NM_001293104.2:c.1224del	NP_001280033.1:p.Thr409ArgfsTer?
NM_001293105.2:c.1137del	NP_001280034.1:p.Thr380ArgfsTer?
NR_120531.2:n.1739del