Canonical Allele Identifier: CA367637691

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2962907
• ClinVar RCV Id: RCV003828017
• dbSNP Id: rs1554303791
• gnomAD v4: 7-65961054-C-CT
• MyVariant Identifiers: chr7:g.65426041_65426042insT (hg19) ; chr7:g.65961054_65961055insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961055dup , CM000669.2:g.65961055dup	GRCh38
NC_000007.13:g.65426042dup , CM000669.1:g.65426042dup	GRCh37
NC_000007.12:g.65063477dup	NCBI36
NG_016197.1:g.26260dup
NG_051954.1:g.92957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1798dup MANE Select	ENSP00000302728.4:p.Arg600LysfsTer6
ENST00000304895.8:c.1798dup	ENSP00000302728.4:p.Arg600LysfsTer6
ENST00000421103.5:c.1360dup	ENSP00000391390.1:p.Arg454LysfsTer6
ENST00000430730.5:c.*1065dup	ENSP00000411859.1:n.*1065dup
ENST00000447929.5:c.*1178dup	ENSP00000411262.1:n.*1178dup
ENST00000466883.5:n.2188dup
NM_000181.3:c.1798dup	NP_000172.2:p.Arg600LysfsTer6
NM_001284290.1:c.1360dup	NP_001271219.1:p.Arg454LysfsTer6
NM_001293104.1:c.1228dup	NP_001280033.1:p.Arg410LysfsTer6
NM_001293105.1:c.1141dup	NP_001280034.1:p.Arg381LysfsTer6
NR_120531.1:n.1844dup
XM_005250297.3:c.1645dup	XP_005250354.1:p.Arg549LysfsTer6
XM_011516113.1:c.1297dup	XP_011514415.1:p.Arg433LysfsTer6
XM_011516114.1:c.1126dup	XP_011514416.1:p.Arg376LysfsTer6
XM_005250297.4:c.1645dup	XP_005250354.1:p.Arg549LysfsTer6
XM_011516114.2:c.1126dup	XP_011514416.1:p.Arg376LysfsTer6
XM_017012091.1:c.1144dup	XP_016867580.1:p.Arg382LysfsTer6
XM_017012092.1:c.1075dup	XP_016867581.1:p.Arg359LysfsTer6
XM_017012093.2:c.973dup	XP_016867582.1:p.Arg325LysfsTer6
XR_001744658.2:n.1605dup
XR_001744659.2:n.1718dup
XR_001744660.2:n.1650dup
XR_001744661.2:n.1565dup
XR_927461.3:n.1803dup
NM_000181.4:c.1798dup MANE Select	NP_000172.2:p.Arg600LysfsTer6
NM_001284290.2:c.1360dup	NP_001271219.1:p.Arg454LysfsTer6
NM_001293104.2:c.1228dup	NP_001280033.1:p.Arg410LysfsTer6
NM_001293105.2:c.1141dup	NP_001280034.1:p.Arg381LysfsTer6
NR_120531.2:n.1743dup