Canonical Allele Identifier: CA16615823
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 405496
ClinVar RCV Id: RCV000467655 RCV000581213
dbSNP Id: rs1060500739
MyVariant Identifiers: chr18:g.48575069_48575073del (hg19) chr18:g.51048699_51048703del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51048699_51048703del , CM000680.2:g.51048699_51048703del GRCh38
NC_000018.9:g.48575069_48575073del , CM000680.1:g.48575069_48575073del GRCh37
NC_000018.8:g.46829067_46829071del NCBI36
NG_013013.2:g.85660_85664del , LRG_318:g.85660_85664del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.263_267del ENSP00000465878.2:p.Lys88IlefsTer14
ENST00000589076.6:c.263_267del ENSP00000466934.2:p.Lys88IlefsTer14
ENST00000589941.2:c.263_267del ENSP00000465874.2:p.Lys88IlefsTer14
ENST00000590061.2:c.263_267del ENSP00000464772.2:p.Lys88IlefsTer14
ENST00000593223.2:c.263_267del ENSP00000466118.2:p.Lys88IlefsTer14
ENST00000611848.2:c.263_267del ENSP00000478613.2:p.Lys88IlefsTer14
ENST00000342988.8:c.263_267del MANE Select ENSP00000341551.3:p.Lys88IlefsTer14
ENST00000342988.7:c.263_267del ENSP00000341551.3:p.Lys88IlefsTer14
ENST00000398417.6:c.263_267del ENSP00000381452.1:p.Lys88IlefsTer14
ENST00000588745.5:c.263_267del ENSP00000464901.1:p.Lys88IlefsTer14
ENST00000588860.5:c.263_267del ENSP00000465878.1:p.Lys88IlefsTer14
ENST00000589076.5:c.263_267del ENSP00000466934.1:p.Lys88IlefsTer?
ENST00000589706.1:n.131_135del
ENST00000589941.1:c.263_267del ENSP00000465874.1:p.Lys88IlefsTer14
ENST00000590061.1:c.263_267del ENSP00000464772.1:p.Lys88IlefsTer14
ENST00000590722.2:c.*286_*290del ENSP00000465737.1:n.*286_*290del
ENST00000591914.5:c.263_267del ENSP00000466941.1:p.Lys88IlefsTer14
ENST00000592186.5:c.263_267del ENSP00000468611.1:p.Lys88IlefsTer14
ENST00000592911.5:n.41_45del
NM_005359.5:c.263_267del , LRG_318t1:c.263_267del NP_005350.1:p.Lys88IlefsTer14
NM_005359.6:c.263_267del MANE Select NP_005350.1:p.Lys88IlefsTer14
Search 100 bp 5'
Search 100 bp 3'