Canonical Allele Identifier: CA259188
Gene: SMAD4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058188_51058189insGCCC , CM000680.2:g.51058188_51058189insGCCC GRCh38
NC_000018.9:g.48584558_48584559insGCCC , CM000680.1:g.48584558_48584559insGCCC GRCh37
NC_000018.8:g.46838556_46838557insGCCC NCBI36
NG_013013.2:g.95149_95150insGCCC , LRG_318:g.95149_95150insGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.731_732insGCCC ENSP00000465878.2:p.Gln245ProfsTer20
ENST00000589076.6:c.731_732insGCCC ENSP00000466934.2:p.Gln245ProfsTer20
ENST00000589941.2:c.731_732insGCCC ENSP00000465874.2:p.Gln245ProfsTer20
ENST00000590061.2:c.731_732insGCCC ENSP00000464772.2:p.Gln245ProfsTer20
ENST00000593223.2:c.731_732insGCCC ENSP00000466118.2:p.Gln245ProfsTer20
ENST00000611848.2:c.731_732insGCCC ENSP00000478613.2:p.Gln245ProfsTer20
ENST00000684953.1:n.2103_2104insGCCC
ENST00000685232.1:n.839_840insGCCC
ENST00000688307.1:n.156-1678_156-1677insGCCC
ENST00000688574.1:n.839_840insGCCC
ENST00000688903.1:n.945_946insGCCC
ENST00000690892.1:n.839_840insGCCC
ENST00000342988.8:c.731_732insGCCC MANE Select ENSP00000341551.3:p.Gln245ProfsTer20
ENST00000342988.7:c.731_732insGCCC ENSP00000341551.3:p.Gln245ProfsTer20
ENST00000398417.6:c.731_732insGCCC ENSP00000381452.1:p.Gln245ProfsTer20
ENST00000588745.5:c.667+3195_667+3196insGCCC ENSP00000464901.1:n.667+3195_667+3196insGCCC
ENST00000591126.5:n.2732_2733insGCCC
ENST00000592186.5:c.731_732insGCCC ENSP00000468611.1:p.Gln245ProfsTer20
NM_005359.5:c.731_732insGCCC , LRG_318t1:c.731_732insGCCC NP_005350.1:p.Gln245ProfsTer20
NM_005359.6:c.731_732insGCCC MANE Select NP_005350.1:p.Gln245ProfsTer20
Search 100 bp 5'
Search 100 bp 3'