Canonical Allele Identifier: CA159904433

Gene: GUSB

Linked Data

• dbSNP Id: rs372007777
• MyVariant Identifiers: chr7:g.65425898_65425899insG (hg19) ; chr7:g.65960911_65960912insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960912dup , CM000669.2:g.65960912dup	GRCh38
NC_000007.13:g.65425899dup , CM000669.1:g.65425899dup	GRCh37
NC_000007.12:g.65063334dup	NCBI36
NG_016197.1:g.26403dup
NG_051954.1:g.92814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1941dup MANE Select	ENSP00000302728.4:p.Ser648GlnfsTer?
ENST00000304895.8:c.1941dup	ENSP00000302728.4:p.Ser648GlnfsTer?
ENST00000421103.5:c.1503dup	ENSP00000391390.1:p.Ser502GlnfsTer?
ENST00000430730.5:c.*1208dup	ENSP00000411859.1:n.*1208dup
ENST00000447929.5:c.*1321dup	ENSP00000411262.1:n.*1321dup
ENST00000466883.5:n.2331dup
NM_000181.3:c.1941dup	NP_000172.2:p.Ser648GlnfsTer?
NM_001284290.1:c.1503dup	NP_001271219.1:p.Ser502GlnfsTer?
NM_001293104.1:c.1371dup	NP_001280033.1:p.Ser458GlnfsTer?
NM_001293105.1:c.1284dup	NP_001280034.1:p.Ser429GlnfsTer?
NR_120531.1:n.1987dup
XM_005250297.3:c.1788dup	XP_005250354.1:p.Ser597GlnfsTer?
XM_011516113.1:c.1440dup	XP_011514415.1:p.Ser481GlnfsTer?
XM_011516114.1:c.1269dup	XP_011514416.1:p.Ser424GlnfsTer?
XM_005250297.4:c.1788dup	XP_005250354.1:p.Ser597GlnfsTer?
XM_011516114.2:c.1269dup	XP_011514416.1:p.Ser424GlnfsTer?
XM_017012091.1:c.1287dup	XP_016867580.1:p.Ser430GlnfsTer?
XM_017012092.1:c.1218dup	XP_016867581.1:p.Ser407GlnfsTer?
XM_017012093.2:c.1116dup	XP_016867582.1:p.Ser373GlnfsTer?
XR_001744658.2:n.1748dup
XR_001744659.2:n.1861dup
XR_001744660.2:n.1793dup
XR_001744661.2:n.1708dup
XR_927461.3:n.1946dup
NM_000181.4:c.1941dup MANE Select	NP_000172.2:p.Ser648GlnfsTer?
NM_001284290.2:c.1503dup	NP_001271219.1:p.Ser502GlnfsTer?
NM_001293104.2:c.1371dup	NP_001280033.1:p.Ser458GlnfsTer?
NM_001293105.2:c.1284dup	NP_001280034.1:p.Ser429GlnfsTer?
NR_120531.2:n.1886dup