Canonical Allele Identifier: CA2578899516
Community Standard Title: NM_000181.4(GUSB):c.932dup (p.Ser312ValfsTer7)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65975052dup , CM000669.2:g.65975052dup GRCh38
NC_000007.13:g.65440039dup , CM000669.1:g.65440039dup GRCh37
NC_000007.12:g.65077474dup NCBI36
NG_016197.1:g.12263dup

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.932dup MANE Select NP_000172.2:p.Ser312ValfsTer7
ENST00000304895.9:c.932dup MANE Select ENSP00000302728.4:p.Ser312ValfsTer7
NM_000181.3:c.932dup NP_000172.2:p.Ser312ValfsTer7
NM_001284290.1:c.494dup NP_001271219.1:p.Ser166ValfsTer7
NM_001284290.2:c.494dup NP_001271219.1:p.Ser166ValfsTer7
NM_001293104.1:c.362dup NP_001280033.1:p.Ser122ValfsTer7
NM_001293104.2:c.362dup NP_001280033.1:p.Ser122ValfsTer7
NM_001293105.1:c.275dup NP_001280034.1:p.Ser93ValfsTer7
NM_001293105.2:c.275dup NP_001280034.1:p.Ser93ValfsTer7
NR_120531.1:n.1063dup
NR_120531.2:n.962dup
ENST00000304895.8:c.932dup ENSP00000302728.4:p.Ser312ValfsTer7
ENST00000421103.5:c.494dup ENSP00000391390.1:p.Ser166ValfsTer7
ENST00000430730.5:c.*199dup ENSP00000411859.1:n.*199dup
ENST00000447929.5:c.*312dup ENSP00000411262.1:n.*312dup
ENST00000465785.5:n.299-348dup
ENST00000466883.5:n.1109dup
ENST00000475316.5:n.304-348dup
ENST00000476486.5:n.736dup
ENST00000479038.1:n.189-348dup
XM_005250297.3:c.913-348dup XP_005250354.1:n.913-348dup
XM_005250297.4:c.913-348dup XP_005250354.1:n.913-348dup
XM_011516113.1:c.431dup XP_011514415.1:p.Ser145ValfsTer7
XM_011516114.1:c.260dup XP_011514416.1:p.Ser88ValfsTer7
XM_011516114.2:c.260dup XP_011514416.1:p.Ser88ValfsTer7
XM_017012091.1:c.412-348dup XP_016867580.1:n.412-348dup
XM_017012092.1:c.343-348dup XP_016867581.1:n.343-348dup
XM_017012093.2:c.241-348dup XP_016867582.1:n.241-348dup
XR_001744658.2:n.958-348dup
XR_001744659.2:n.977dup
XR_001744660.2:n.958-348dup
XR_001744661.2:n.958-348dup
XR_927461.1:n.1058dup
XR_927461.3:n.977dup