Canonical Allele Identifier: CA2683078582

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967860-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967861dup , CM000669.2:g.65967861dup	GRCh38
NC_000007.13:g.65432848dup , CM000669.1:g.65432848dup	GRCh37
NC_000007.12:g.65070283dup	NCBI36
NG_016197.1:g.19454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1523dup MANE Select	ENSP00000302728.4:p.Tyr508Ter
ENST00000304895.8:c.1523dup	ENSP00000302728.4:p.Tyr508Ter
ENST00000421103.5:c.1085dup	ENSP00000391390.1:p.Tyr362Ter
ENST00000430730.5:c.*790dup	ENSP00000411859.1:n.*790dup
ENST00000447929.5:c.*903dup	ENSP00000411262.1:n.*903dup
ENST00000461622.1:n.48dup
ENST00000462371.1:n.561dup
ENST00000466883.5:n.1913dup
NM_000181.3:c.1523dup	NP_000172.2:p.Tyr508Ter
NM_001284290.1:c.1085dup	NP_001271219.1:p.Tyr362Ter
NM_001293104.1:c.953dup	NP_001280033.1:p.Tyr318Ter
NM_001293105.1:c.866dup	NP_001280034.1:p.Tyr289Ter
NR_120531.1:n.1569dup
XM_005250297.3:c.1370dup	XP_005250354.1:p.Tyr457Ter
XM_011516113.1:c.1022dup	XP_011514415.1:p.Tyr341Ter
XM_011516114.1:c.851dup	XP_011514416.1:p.Tyr284Ter
XR_927461.1:n.1609dup
XM_005250297.4:c.1370dup	XP_005250354.1:p.Tyr457Ter
XM_011516114.2:c.851dup	XP_011514416.1:p.Tyr284Ter
XM_017012091.1:c.869dup	XP_016867580.1:p.Tyr290Ter
XM_017012092.1:c.800dup	XP_016867581.1:p.Tyr267Ter
XM_017012093.2:c.698dup	XP_016867582.1:p.Tyr233Ter
XR_001744658.2:n.1330dup
XR_001744659.2:n.1443dup
XR_001744660.2:n.1375dup
XR_001744661.2:n.1290dup
XR_927461.3:n.1528dup
NM_000181.4:c.1523dup MANE Select	NP_000172.2:p.Tyr508Ter
NM_001284290.2:c.1085dup	NP_001271219.1:p.Tyr362Ter
NM_001293104.2:c.953dup	NP_001280033.1:p.Tyr318Ter
NM_001293105.2:c.866dup	NP_001280034.1:p.Tyr289Ter
NR_120531.2:n.1468dup