Canonical Allele Identifier: CA841242684

Gene: GUSB

Linked Data

• dbSNP Id: rs1170937483
• MyVariant Identifiers: chr7:g.65425948del (hg19) ; chr7:g.65960961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960962del , CM000669.2:g.65960962del	GRCh38
NC_000007.13:g.65425949del , CM000669.1:g.65425949del	GRCh37
NC_000007.12:g.65063384del	NCBI36
NG_016197.1:g.26354del
NG_051954.1:g.92864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1892del MANE Select	ENSP00000302728.4:p.Asn631MetfsTer9
ENST00000304895.8:c.1892del	ENSP00000302728.4:p.Asn631MetfsTer9
ENST00000421103.5:c.1454del	ENSP00000391390.1:p.Asn485MetfsTer9
ENST00000430730.5:c.*1159del	ENSP00000411859.1:n.*1159del
ENST00000447929.5:c.*1272del	ENSP00000411262.1:n.*1272del
ENST00000466883.5:n.2282del
NM_000181.3:c.1892del	NP_000172.2:p.Asn631MetfsTer9
NM_001284290.1:c.1454del	NP_001271219.1:p.Asn485MetfsTer9
NM_001293104.1:c.1322del	NP_001280033.1:p.Asn441MetfsTer9
NM_001293105.1:c.1235del	NP_001280034.1:p.Asn412MetfsTer9
NR_120531.1:n.1938del
XM_005250297.3:c.1739del	XP_005250354.1:p.Asn580MetfsTer9
XM_011516113.1:c.1391del	XP_011514415.1:p.Asn464MetfsTer9
XM_011516114.1:c.1220del	XP_011514416.1:p.Asn407MetfsTer9
XM_005250297.4:c.1739del	XP_005250354.1:p.Asn580MetfsTer9
XM_011516114.2:c.1220del	XP_011514416.1:p.Asn407MetfsTer9
XM_017012091.1:c.1238del	XP_016867580.1:p.Asn413MetfsTer9
XM_017012092.1:c.1169del	XP_016867581.1:p.Asn390MetfsTer9
XM_017012093.2:c.1067del	XP_016867582.1:p.Asn356MetfsTer9
XR_001744658.2:n.1699del
XR_001744659.2:n.1812del
XR_001744660.2:n.1744del
XR_001744661.2:n.1659del
XR_927461.3:n.1897del
NM_000181.4:c.1892del MANE Select	NP_000172.2:p.Asn631MetfsTer9
NM_001284290.2:c.1454del	NP_001271219.1:p.Asn485MetfsTer9
NM_001293104.2:c.1322del	NP_001280033.1:p.Asn441MetfsTer9
NM_001293105.2:c.1235del	NP_001280034.1:p.Asn412MetfsTer9
NR_120531.2:n.1837del