Canonical Allele Identifier: CA259173
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 24804
ClinVar RCV Id: RCV001376568 RCV002311523
dbSNP Id: rs377767328
MyVariant Identifiers: chr18:g.48575670_48575671del (hg19) chr18:g.51049300_51049301del (hg38)
PubMed: PMID:16436638
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51049300_51049301del , CM000680.2:g.51049300_51049301del GRCh38
NC_000018.9:g.48575670_48575671del , CM000680.1:g.48575670_48575671del GRCh37
NC_000018.8:g.46829668_46829669del NCBI36
NG_013013.2:g.86261_86262del , LRG_318:g.86261_86262del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.430_431del ENSP00000465878.2:p.Ser144ArgfsTer7
ENST00000589076.6:c.430_431del ENSP00000466934.2:p.Ser144ArgfsTer7
ENST00000589941.2:c.430_431del ENSP00000465874.2:p.Ser144ArgfsTer7
ENST00000590061.2:c.430_431del ENSP00000464772.2:p.Ser144ArgfsTer7
ENST00000593223.2:c.430_431del ENSP00000466118.2:p.Ser144ArgfsTer7
ENST00000611848.2:c.430_431del ENSP00000478613.2:p.Ser144ArgfsTer7
ENST00000342988.8:c.430_431del MANE Select ENSP00000341551.3:p.Ser144ArgfsTer7
ENST00000342988.7:c.430_431del ENSP00000341551.3:p.Ser144ArgfsTer7
ENST00000398417.6:c.430_431del ENSP00000381452.1:p.Ser144ArgfsTer7
ENST00000588745.5:c.430_431del ENSP00000464901.1:p.Ser144ArgfsTer7
ENST00000589706.1:n.298_299del
ENST00000590722.2:c.*453_*454del ENSP00000465737.1:n.*453_*454del
ENST00000591914.5:c.430_431del ENSP00000466941.1:p.Ser144ArgfsTer7
ENST00000592186.5:c.430_431del ENSP00000468611.1:p.Ser144ArgfsTer7
ENST00000592911.5:n.208_209del
NM_005359.5:c.430_431del , LRG_318t1:c.430_431del NP_005350.1:p.Ser144ArgfsTer7
NM_005359.6:c.430_431del MANE Select NP_005350.1:p.Ser144ArgfsTer7
Search 100 bp 5'
Search 100 bp 3'