Canonical Allele Identifier: CA259186
Gene: SMAD4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51054934del , CM000680.2:g.51054934del GRCh38
NC_000018.9:g.48581304del , CM000680.1:g.48581304del GRCh37
NC_000018.8:g.46835302del NCBI36
NG_013013.2:g.91895del , LRG_318:g.91895del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.608del ENSP00000465878.2:p.Pro203HisfsTer?
ENST00000589076.6:c.608del ENSP00000466934.2:p.Pro203HisfsTer?
ENST00000589941.2:c.608del ENSP00000465874.2:p.Pro203HisfsTer?
ENST00000590061.2:c.608del ENSP00000464772.2:p.Pro203HisfsTer?
ENST00000593223.2:c.608del ENSP00000466118.2:p.Pro203HisfsTer?
ENST00000611848.2:c.608del ENSP00000478613.2:p.Pro203HisfsTer?
ENST00000684953.1:n.1980del
ENST00000688307.1:n.96del
ENST00000342988.8:c.608del MANE Select ENSP00000341551.3:p.Pro203HisfsTer?
ENST00000342988.7:c.608del ENSP00000341551.3:p.Pro203HisfsTer?
ENST00000398417.6:c.608del ENSP00000381452.1:p.Pro203HisfsTer?
ENST00000588745.5:c.608del ENSP00000464901.1:p.Pro203HisfsTer?
ENST00000590722.2:c.*784del ENSP00000465737.1:n.*784del
ENST00000591126.5:n.2609del
ENST00000592186.5:c.608del ENSP00000468611.1:p.Pro203HisfsTer?
ENST00000592911.5:n.386del
NM_005359.5:c.608del , LRG_318t1:c.608del NP_005350.1:p.Pro203HisfsTer?
NM_005359.6:c.608del MANE Select NP_005350.1:p.Pro203HisfsTer?
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