Canonical Allele Identifier: CA259238
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs377767362
MyVariant Identifiers: chr18:g.48603042_48603064del (hg19) chr18:g.51076672_51076694del (hg38)
PubMed: PMID:15235019
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51076672_51076694del , CM000680.2:g.51076672_51076694del GRCh38
NC_000018.9:g.48603042_48603064del , CM000680.1:g.48603042_48603064del GRCh37
NC_000018.8:g.46857040_46857062del NCBI36
NG_013013.2:g.113633_113655del , LRG_318:g.113633_113655del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1343_1365del ENSP00000465878.2:p.Gln448ArgfsTer?
ENST00000589076.6:c.1343_1365del ENSP00000466934.2:p.Gln448ArgfsTer?
ENST00000589941.2:c.1343_1365del ENSP00000465874.2:p.Gln448ArgfsTer?
ENST00000590061.2:c.1343_1365del ENSP00000464772.2:p.Gln448ArgfsTer?
ENST00000593223.2:c.1343_1365del ENSP00000466118.2:p.Gln448ArgfsTer29
ENST00000611848.2:c.1343_1365del ENSP00000478613.2:p.Gln448ArgfsTer?
ENST00000684953.1:n.2715_2737del
ENST00000685090.1:n.1794_1816del
ENST00000685232.1:n.1451_1473del
ENST00000688574.1:n.1451_1473del
ENST00000691124.1:n.2825_2847del
ENST00000342988.8:c.1343_1365del MANE Select ENSP00000341551.3:p.Gln448ArgfsTer?
ENST00000342988.7:c.1343_1365del ENSP00000341551.3:p.Gln448ArgfsTer?
ENST00000398417.6:c.1343_1365del ENSP00000381452.1:p.Gln448ArgfsTer?
ENST00000588745.5:c.1055_1077del ENSP00000464901.1:p.Gln352ArgfsTer?
ENST00000590499.1:n.401_423del
ENST00000591126.5:n.3344_3366del
ENST00000592186.5:c.990_1012del ENSP00000468611.1:n.990_1012del
ENST00000593223.1:c.110_132del ENSP00000466118.1:p.Gln37ArgfsTer29
ENST00000611848.1:c.543_565del
NM_005359.5:c.1343_1365del , LRG_318t1:c.1343_1365del NP_005350.1:p.Gln448ArgfsTer?
NM_005359.6:c.1343_1365del MANE Select NP_005350.1:p.Gln448ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'