Canonical Allele Identifier: CA2697557268

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2757736
• ClinVar RCV Id: RCV003495893

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961047dup , CM000669.2:g.65961047dup	GRCh38
NC_000007.13:g.65426034dup , CM000669.1:g.65426034dup	GRCh37
NC_000007.12:g.65063469dup	NCBI36
NG_016197.1:g.26271dup
NG_051954.1:g.92949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1809dup MANE Select	ENSP00000302728.4:p.Asn604GlufsTer2
ENST00000304895.8:c.1809dup	ENSP00000302728.4:p.Asn604GlufsTer2
ENST00000421103.5:c.1371dup	ENSP00000391390.1:p.Asn458GlufsTer2
ENST00000430730.5:c.*1076dup	ENSP00000411859.1:n.*1076dup
ENST00000447929.5:c.*1189dup	ENSP00000411262.1:n.*1189dup
ENST00000466883.5:n.2199dup
NM_000181.3:c.1809dup	NP_000172.2:p.Asn604GlufsTer2
NM_001284290.1:c.1371dup	NP_001271219.1:p.Asn458GlufsTer2
NM_001293104.1:c.1239dup	NP_001280033.1:p.Asn414GlufsTer2
NM_001293105.1:c.1152dup	NP_001280034.1:p.Asn385GlufsTer2
NR_120531.1:n.1855dup
XM_005250297.3:c.1656dup	XP_005250354.1:p.Asn553GlufsTer2
XM_011516113.1:c.1308dup	XP_011514415.1:p.Asn437GlufsTer2
XM_011516114.1:c.1137dup	XP_011514416.1:p.Asn380GlufsTer2
XM_005250297.4:c.1656dup	XP_005250354.1:p.Asn553GlufsTer2
XM_011516114.2:c.1137dup	XP_011514416.1:p.Asn380GlufsTer2
XM_017012091.1:c.1155dup	XP_016867580.1:p.Asn386GlufsTer2
XM_017012092.1:c.1086dup	XP_016867581.1:p.Asn363GlufsTer2
XM_017012093.2:c.984dup	XP_016867582.1:p.Asn329GlufsTer2
XR_001744658.2:n.1616dup
XR_001744659.2:n.1729dup
XR_001744660.2:n.1661dup
XR_001744661.2:n.1576dup
XR_927461.3:n.1814dup
NM_000181.4:c.1809dup MANE Select	NP_000172.2:p.Asn604GlufsTer2
NM_001284290.2:c.1371dup	NP_001271219.1:p.Asn458GlufsTer2
NM_001293104.2:c.1239dup	NP_001280033.1:p.Asn414GlufsTer2
NM_001293105.2:c.1152dup	NP_001280034.1:p.Asn385GlufsTer2
NR_120531.2:n.1754dup