Canonical Allele Identifier: CA1713854356

Gene: GUSB

Linked Data

• dbSNP Id: rs1790439505
• gnomAD v4: 7-65960884-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960885dup , CM000669.2:g.65960885dup	GRCh38
NC_000007.13:g.65425872dup , CM000669.1:g.65425872dup	GRCh37
NC_000007.12:g.65063307dup	NCBI36
NG_016197.1:g.26430dup
NG_051954.1:g.92787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*12dup MANE Select	ENSP00000302728.4:n.*12dup
ENST00000304895.8:c.*12dup	ENSP00000302728.4:n.*12dup
ENST00000421103.5:c.*12dup	ENSP00000391390.1:n.*12dup
ENST00000430730.5:c.*1235dup	ENSP00000411859.1:n.*1235dup
ENST00000447929.5:c.*1348dup	ENSP00000411262.1:n.*1348dup
ENST00000466883.5:n.2358dup
NM_000181.3:c.*12dup	NP_000172.2:n.*12dup
NM_001284290.1:c.*12dup	NP_001271219.1:n.*12dup
NM_001293104.1:c.*12dup	NP_001280033.1:n.*12dup
NM_001293105.1:c.*12dup	NP_001280034.1:n.*12dup
NR_120531.1:n.2014dup
XM_005250297.3:c.*12dup	XP_005250354.1:n.*12dup
XM_011516113.1:c.*12dup	XP_011514415.1:n.*12dup
XM_011516114.1:c.*12dup	XP_011514416.1:n.*12dup
XM_005250297.4:c.*12dup	XP_005250354.1:n.*12dup
XM_011516114.2:c.*12dup	XP_011514416.1:n.*12dup
XM_017012091.1:c.*12dup	XP_016867580.1:n.*12dup
XM_017012092.1:c.*12dup	XP_016867581.1:n.*12dup
XM_017012093.2:c.*12dup	XP_016867582.1:n.*12dup
XR_001744658.2:n.1775dup
XR_001744659.2:n.1888dup
XR_001744660.2:n.1820dup
XR_001744661.2:n.1735dup
XR_927461.3:n.1973dup
NM_000181.4:c.*12dup MANE Select	NP_000172.2:n.*12dup
NM_001284290.2:c.*12dup	NP_001271219.1:n.*12dup
NM_001293104.2:c.*12dup	NP_001280033.1:n.*12dup
NM_001293105.2:c.*12dup	NP_001280034.1:n.*12dup
NR_120531.2:n.1913dup