Canonical Allele Identifier: CA2578903408

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960947del , CM000669.2:g.65960947del	GRCh38
NC_000007.13:g.65425934del , CM000669.1:g.65425934del	GRCh37
NC_000007.12:g.65063369del	NCBI36
NG_016197.1:g.26371del
NG_051954.1:g.92849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1909del MANE Select	ENSP00000302728.4:p.His637ThrfsTer3
ENST00000304895.8:c.1909del	ENSP00000302728.4:p.His637ThrfsTer3
ENST00000421103.5:c.1471del	ENSP00000391390.1:p.His491ThrfsTer3
ENST00000430730.5:c.*1176del	ENSP00000411859.1:n.*1176del
ENST00000447929.5:c.*1289del	ENSP00000411262.1:n.*1289del
ENST00000466883.5:n.2299del
NM_000181.3:c.1909del	NP_000172.2:p.His637ThrfsTer3
NM_001284290.1:c.1471del	NP_001271219.1:p.His491ThrfsTer3
NM_001293104.1:c.1339del	NP_001280033.1:p.His447ThrfsTer3
NM_001293105.1:c.1252del	NP_001280034.1:p.His418ThrfsTer3
NR_120531.1:n.1955del
XM_005250297.3:c.1756del	XP_005250354.1:p.His586ThrfsTer3
XM_011516113.1:c.1408del	XP_011514415.1:p.His470ThrfsTer3
XM_011516114.1:c.1237del	XP_011514416.1:p.His413ThrfsTer3
XM_005250297.4:c.1756del	XP_005250354.1:p.His586ThrfsTer3
XM_011516114.2:c.1237del	XP_011514416.1:p.His413ThrfsTer3
XM_017012091.1:c.1255del	XP_016867580.1:p.His419ThrfsTer3
XM_017012092.1:c.1186del	XP_016867581.1:p.His396ThrfsTer3
XM_017012093.2:c.1084del	XP_016867582.1:p.His362ThrfsTer3
XR_001744658.2:n.1716del
XR_001744659.2:n.1829del
XR_001744660.2:n.1761del
XR_001744661.2:n.1676del
XR_927461.3:n.1914del
NM_000181.4:c.1909del MANE Select	NP_000172.2:p.His637ThrfsTer3
NM_001284290.2:c.1471del	NP_001271219.1:p.His491ThrfsTer3
NM_001293104.2:c.1339del	NP_001280033.1:p.His447ThrfsTer3
NM_001293105.2:c.1252del	NP_001280034.1:p.His418ThrfsTer3
NR_120531.2:n.1854del