Canonical Allele Identifier: CA2578903409

Gene: GUSB

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1909dup MANE Select	ENSP00000302728.4:p.His637ProfsTer?
ENST00000304895.8:c.1909dup	ENSP00000302728.4:p.His637ProfsTer?
ENST00000421103.5:c.1471dup	ENSP00000391390.1:p.His491ProfsTer?
ENST00000430730.5:c.*1176dup	ENSP00000411859.1:n.*1176dup
ENST00000447929.5:c.*1289dup	ENSP00000411262.1:n.*1289dup
ENST00000466883.5:n.2299dup
NM_000181.3:c.1909dup	NP_000172.2:p.His637ProfsTer?
NM_001284290.1:c.1471dup	NP_001271219.1:p.His491ProfsTer?
NM_001293104.1:c.1339dup	NP_001280033.1:p.His447ProfsTer?
NM_001293105.1:c.1252dup	NP_001280034.1:p.His418ProfsTer?
NR_120531.1:n.1955dup
XM_005250297.3:c.1756dup	XP_005250354.1:p.His586ProfsTer?
XM_011516113.1:c.1408dup	XP_011514415.1:p.His470ProfsTer?
XM_011516114.1:c.1237dup	XP_011514416.1:p.His413ProfsTer?
XM_005250297.4:c.1756dup	XP_005250354.1:p.His586ProfsTer?
XM_011516114.2:c.1237dup	XP_011514416.1:p.His413ProfsTer?
XM_017012091.1:c.1255dup	XP_016867580.1:p.His419ProfsTer?
XM_017012092.1:c.1186dup	XP_016867581.1:p.His396ProfsTer?
XM_017012093.2:c.1084dup	XP_016867582.1:p.His362ProfsTer?
XR_001744658.2:n.1716dup
XR_001744659.2:n.1829dup
XR_001744660.2:n.1761dup
XR_001744661.2:n.1676dup
XR_927461.3:n.1914dup
NM_000181.4:c.1909dup MANE Select	NP_000172.2:p.His637ProfsTer?
NM_001284290.2:c.1471dup	NP_001271219.1:p.His491ProfsTer?
NM_001293104.2:c.1339dup	NP_001280033.1:p.His447ProfsTer?
NM_001293105.2:c.1252dup	NP_001280034.1:p.His418ProfsTer?
NR_120531.2:n.1854dup