Canonical Allele Identifier: CA259167
Community Standard Title: NM_005359.6(SMAD4):c.373_374insAT (p.Ser125AsnfsTer5)
Gene: SMAD4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51048809_51048810insAT , CM000680.2:g.51048809_51048810insAT GRCh38
NC_000018.9:g.48575179_48575180insAT , CM000680.1:g.48575179_48575180insAT GRCh37
NC_000018.8:g.46829177_46829178insAT NCBI36
NG_013013.2:g.85770_85771insAT , LRG_318:g.85770_85771insAT

Transcript Alleles

HGVS Amino-acid Change
NM_005359.6:c.373_374insAT MANE Select NP_005350.1:p.Ser125AsnfsTer5
ENST00000342988.8:c.373_374insAT MANE Select ENSP00000341551.3:p.Ser125AsnfsTer5
NM_005359.5:c.373_374insAT , LRG_318t1:c.373_374insAT NP_005350.1:p.Ser125AsnfsTer5
ENST00000342988.7:c.373_374insAT ENSP00000341551.3:p.Ser125AsnfsTer5
ENST00000398417.6:c.373_374insAT ENSP00000381452.1:p.Ser125AsnfsTer5
ENST00000588745.5:c.373_374insAT ENSP00000464901.1:p.Ser125AsnfsTer5
ENST00000588860.5:c.373_374insAT ENSP00000465878.1:p.Ser125AsnfsTer?
ENST00000588860.6:c.373_374insAT ENSP00000465878.2:p.Ser125AsnfsTer5
ENST00000589076.6:c.373_374insAT ENSP00000466934.2:p.Ser125AsnfsTer5
ENST00000589706.1:n.241_242insAT
ENST00000589941.2:c.373_374insAT ENSP00000465874.2:p.Ser125AsnfsTer5
ENST00000590061.1:c.373_374insAT ENSP00000464772.1:p.Ser125AsnfsTer5
ENST00000590061.2:c.373_374insAT ENSP00000464772.2:p.Ser125AsnfsTer5
ENST00000590722.2:c.*396_*397insAT ENSP00000465737.1:n.*396_*397insAT
ENST00000591914.5:c.373_374insAT ENSP00000466941.1:p.Ser125AsnfsTer5
ENST00000592186.5:c.373_374insAT ENSP00000468611.1:p.Ser125AsnfsTer5
ENST00000592911.5:n.151_152insAT
ENST00000593223.2:c.373_374insAT ENSP00000466118.2:p.Ser125AsnfsTer5
ENST00000611848.2:c.373_374insAT ENSP00000478613.2:p.Ser125AsnfsTer5
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