Canonical Allele Identifier: CA2683083244

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982089-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982091dup , CM000669.2:g.65982091dup	GRCh38
NC_000007.13:g.65447078dup , CM000669.1:g.65447078dup	GRCh37
NC_000007.12:g.65084513dup	NCBI36
NG_016197.1:g.5225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.94dup MANE Select	ENSP00000302728.4:p.Glu32GlyfsTer22
ENST00000304895.8:c.94dup	ENSP00000302728.4:p.Glu32GlyfsTer22
ENST00000421103.5:c.94dup	ENSP00000391390.1:p.Glu32GlyfsTer22
ENST00000430730.5:c.94dup	ENSP00000411859.1:p.Glu32GlyfsTer22
ENST00000446111.1:c.94dup	ENSP00000416793.1:p.Glu32GlyfsTer22
ENST00000447929.5:c.94dup	ENSP00000411262.1:p.Glu32GlyfsTer22
NM_000181.3:c.94dup	NP_000172.2:p.Glu32GlyfsTer22
NM_001284290.1:c.94dup	NP_001271219.1:p.Glu32GlyfsTer22
NM_001293104.1:c.-292dup	NP_001280033.1:n.-292dup
NM_001293105.1:c.-236dup	NP_001280034.1:n.-236dup
NR_120531.1:n.225dup
XM_005250297.3:c.94dup	XP_005250354.1:p.Glu32GlyfsTer22
XM_011516113.1:c.-236dup	XP_011514415.1:n.-236dup
XR_927461.1:n.220dup
XM_005250297.4:c.94dup	XP_005250354.1:p.Glu32GlyfsTer22
XM_011516114.2:c.-592dup	XP_011514416.1:n.-592dup
XM_017012091.1:c.-236dup	XP_016867580.1:n.-236dup
XM_017012092.1:c.-292dup	XP_016867581.1:n.-292dup
XM_017012093.2:c.-592dup	XP_016867582.1:n.-592dup
XR_001744658.2:n.139dup
XR_001744659.2:n.139dup
XR_001744660.2:n.139dup
XR_001744661.2:n.139dup
XR_927461.3:n.139dup
NM_000181.4:c.94dup MANE Select	NP_000172.2:p.Glu32GlyfsTer22
NM_001284290.2:c.94dup	NP_001271219.1:p.Glu32GlyfsTer22
NM_001293104.2:c.-292dup	NP_001280033.1:n.-292dup
NM_001293105.2:c.-236dup	NP_001280034.1:n.-236dup
NR_120531.2:n.124dup