Canonical Allele Identifier: CA16620694

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 420335
• ClinVar RCV Id: RCV000483480
• dbSNP Id: rs1064794420

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51030639_51030641delinsTT , CM000680.2:g.51030639_51030641delinsTT	GRCh38
NC_000018.9:g.48557009_48557011delinsTT , CM000680.1:g.48557009_48557011delinsTT	GRCh37
NC_000018.8:g.46811007_46811009delinsTT	NCBI36
NG_013013.2:g.67600_67602delinsTT , LRG_318:g.67600_67602delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-128+1974_-128+1976delinsTT	ENSP00000465878.2:n.-128+1974_-128+1976delinsTT
ENST00000589076.6:c.-128+363_-128+365delinsTT	ENSP00000466934.2:n.-128+363_-128+365delinsTT
ENST00000589941.2:c.-293+16_-293+18delinsTT	ENSP00000465874.2:n.-293+16_-293+18delinsTT
ENST00000590061.2:c.-60+363_-60+365delinsTT	ENSP00000464772.2:n.-60+363_-60+365delinsTT
ENST00000593223.2:c.-128+16_-128+18delinsTT	ENSP00000466118.2:n.-128+16_-128+18delinsTT
ENST00000342988.8:c.-128+16_-128+18delinsTT MANE Select	ENSP00000341551.3:n.-128+16_-128+18delinsTT
ENST00000342988.7:c.-128+16_-128+18delinsTT	ENSP00000341551.3:n.-128+16_-128+18delinsTT
ENST00000398417.6:c.-128+895_-128+897delinsTT	ENSP00000381452.1:n.-128+895_-128+897delinsTT
ENST00000588256.1:n.335-16281_335-16279delinsTT
ENST00000588860.5:c.-128+1974_-128+1976delinsTT	ENSP00000465878.1:n.-128+1974_-128+1976delinsTT
ENST00000589076.5:c.-128+363_-128+365delinsTT	ENSP00000466934.1:n.-128+363_-128+365delinsTT
ENST00000590061.1:c.-60+363_-60+365delinsTT	ENSP00000464772.1:n.-60+363_-60+365delinsTT
ENST00000590722.2:c.158-16281_158-16279delinsTT	ENSP00000465737.1:n.158-16281_158-16279delinsTT
ENST00000591914.5:c.-128+16_-128+18delinsTT	ENSP00000466941.1:n.-128+16_-128+18delinsTT
ENST00000592911.5:n.27+16_27+18delinsTT
NM_005359.5:c.-128+16_-128+18delinsTT , LRG_318t1:c.-128+16_-128+18delinsTT	NP_005350.1:n.-128+16_-128+18delinsTT
NM_005359.6:c.-128+16_-128+18delinsTT MANE Select	NP_005350.1:n.-128+16_-128+18delinsTT