Canonical Allele Identifier: CA918029038

Gene: GUSB

Linked Data

• dbSNP Id: rs1562665910
• gnomAD v3: 7-65960947-G-GA
• gnomAD v4: 7-65960947-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960948dup , CM000669.2:g.65960948dup	GRCh38
NC_000007.13:g.65425935dup , CM000669.1:g.65425935dup	GRCh37
NC_000007.12:g.65063370dup	NCBI36
NG_016197.1:g.26367dup
NG_051954.1:g.92850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1905dup MANE Select	ENSP00000302728.4:p.Pro636SerfsTer?
ENST00000304895.8:c.1905dup	ENSP00000302728.4:p.Pro636SerfsTer?
ENST00000421103.5:c.1467dup	ENSP00000391390.1:p.Pro490SerfsTer?
ENST00000430730.5:c.*1172dup	ENSP00000411859.1:n.*1172dup
ENST00000447929.5:c.*1285dup	ENSP00000411262.1:n.*1285dup
ENST00000466883.5:n.2295dup
NM_000181.3:c.1905dup	NP_000172.2:p.Pro636SerfsTer?
NM_001284290.1:c.1467dup	NP_001271219.1:p.Pro490SerfsTer?
NM_001293104.1:c.1335dup	NP_001280033.1:p.Pro446SerfsTer?
NM_001293105.1:c.1248dup	NP_001280034.1:p.Pro417SerfsTer?
NR_120531.1:n.1951dup
XM_005250297.3:c.1752dup	XP_005250354.1:p.Pro585SerfsTer?
XM_011516113.1:c.1404dup	XP_011514415.1:p.Pro469SerfsTer?
XM_011516114.1:c.1233dup	XP_011514416.1:p.Pro412SerfsTer?
XM_005250297.4:c.1752dup	XP_005250354.1:p.Pro585SerfsTer?
XM_011516114.2:c.1233dup	XP_011514416.1:p.Pro412SerfsTer?
XM_017012091.1:c.1251dup	XP_016867580.1:p.Pro418SerfsTer?
XM_017012092.1:c.1182dup	XP_016867581.1:p.Pro395SerfsTer?
XM_017012093.2:c.1080dup	XP_016867582.1:p.Pro361SerfsTer?
XR_001744658.2:n.1712dup
XR_001744659.2:n.1825dup
XR_001744660.2:n.1757dup
XR_001744661.2:n.1672dup
XR_927461.3:n.1910dup
NM_000181.4:c.1905dup MANE Select	NP_000172.2:p.Pro636SerfsTer?
NM_001284290.2:c.1467dup	NP_001271219.1:p.Pro490SerfsTer?
NM_001293104.2:c.1335dup	NP_001280033.1:p.Pro446SerfsTer?
NM_001293105.2:c.1248dup	NP_001280034.1:p.Pro417SerfsTer?
NR_120531.2:n.1850dup