Canonical Allele Identifier: CA2697557311

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2728754
• ClinVar RCV Id: RCV003497182

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982112dup , CM000669.2:g.65982112dup	GRCh38
NC_000007.13:g.65447099dup , CM000669.1:g.65447099dup	GRCh37
NC_000007.12:g.65084534dup	NCBI36
NG_016197.1:g.5205dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.74dup MANE Select	ENSP00000302728.4:p.Gly26ArgfsTer28
ENST00000304895.8:c.74dup	ENSP00000302728.4:p.Gly26ArgfsTer28
ENST00000421103.5:c.74dup	ENSP00000391390.1:p.Gly26ArgfsTer28
ENST00000430730.5:c.74dup	ENSP00000411859.1:p.Gly26ArgfsTer28
ENST00000446111.1:c.74dup	ENSP00000416793.1:p.Gly26ArgfsTer28
ENST00000447929.5:c.74dup	ENSP00000411262.1:p.Gly26ArgfsTer28
NM_000181.3:c.74dup	NP_000172.2:p.Gly26ArgfsTer28
NM_001284290.1:c.74dup	NP_001271219.1:p.Gly26ArgfsTer28
NM_001293104.1:c.-312dup	NP_001280033.1:n.-312dup
NM_001293105.1:c.-256dup	NP_001280034.1:n.-256dup
NR_120531.1:n.205dup
XM_005250297.3:c.74dup	XP_005250354.1:p.Gly26ArgfsTer28
XM_011516113.1:c.-256dup	XP_011514415.1:n.-256dup
XR_927461.1:n.200dup
XM_005250297.4:c.74dup	XP_005250354.1:p.Gly26ArgfsTer28
XM_011516114.2:c.-612dup	XP_011514416.1:n.-612dup
XM_017012091.1:c.-256dup	XP_016867580.1:n.-256dup
XM_017012092.1:c.-312dup	XP_016867581.1:n.-312dup
XM_017012093.2:c.-612dup	XP_016867582.1:n.-612dup
XR_001744658.2:n.119dup
XR_001744659.2:n.119dup
XR_001744660.2:n.119dup
XR_001744661.2:n.119dup
XR_927461.3:n.119dup
NM_000181.4:c.74dup MANE Select	NP_000172.2:p.Gly26ArgfsTer28
NM_001284290.2:c.74dup	NP_001271219.1:p.Gly26ArgfsTer28
NM_001293104.2:c.-312dup	NP_001280033.1:n.-312dup
NM_001293105.2:c.-256dup	NP_001280034.1:n.-256dup
NR_120531.2:n.104dup