Canonical Allele Identifier: CA2776236112

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960943del , CM000669.2:g.65960943del	GRCh38
NC_000007.13:g.65425930del , CM000669.1:g.65425930del	GRCh37
NC_000007.12:g.65063365del	NCBI36
NG_016197.1:g.26372del
NG_051954.1:g.92845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1910del MANE Select	ENSP00000302728.4:p.His637ProfsTer3
ENST00000304895.8:c.1910del	ENSP00000302728.4:p.His637ProfsTer3
ENST00000421103.5:c.1472del	ENSP00000391390.1:p.His491ProfsTer3
ENST00000430730.5:c.*1177del	ENSP00000411859.1:n.*1177del
ENST00000447929.5:c.*1290del	ENSP00000411262.1:n.*1290del
ENST00000466883.5:n.2300del
NM_000181.3:c.1910del	NP_000172.2:p.His637ProfsTer3
NM_001284290.1:c.1472del	NP_001271219.1:p.His491ProfsTer3
NM_001293104.1:c.1340del	NP_001280033.1:p.His447ProfsTer3
NM_001293105.1:c.1253del	NP_001280034.1:p.His418ProfsTer3
NR_120531.1:n.1956del
XM_005250297.3:c.1757del	XP_005250354.1:p.His586ProfsTer3
XM_011516113.1:c.1409del	XP_011514415.1:p.His470ProfsTer3
XM_011516114.1:c.1238del	XP_011514416.1:p.His413ProfsTer3
XM_005250297.4:c.1757del	XP_005250354.1:p.His586ProfsTer3
XM_011516114.2:c.1238del	XP_011514416.1:p.His413ProfsTer3
XM_017012091.1:c.1256del	XP_016867580.1:p.His419ProfsTer3
XM_017012092.1:c.1187del	XP_016867581.1:p.His396ProfsTer3
XM_017012093.2:c.1085del	XP_016867582.1:p.His362ProfsTer3
XR_001744658.2:n.1717del
XR_001744659.2:n.1830del
XR_001744660.2:n.1762del
XR_001744661.2:n.1677del
XR_927461.3:n.1915del
NM_000181.4:c.1910del MANE Select	NP_000172.2:p.His637ProfsTer3
NM_001284290.2:c.1472del	NP_001271219.1:p.His491ProfsTer3
NM_001293104.2:c.1340del	NP_001280033.1:p.His447ProfsTer3
NM_001293105.2:c.1253del	NP_001280034.1:p.His418ProfsTer3
NR_120531.2:n.1855del