Canonical Allele Identifier: CA2302971718

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046917_51046920delinsTAGG , CM000680.2:g.51046917_51046920delinsTAGG	GRCh38
NC_000018.9:g.48573287_48573290delinsTAGG , CM000680.1:g.48573287_48573290delinsTAGG	GRCh37
NC_000018.8:g.46827285_46827288delinsTAGG	NCBI36
NG_013013.2:g.83878_83881delinsTAGG , LRG_318:g.83878_83881delinsTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-127-3_-127delinsTAGG
ENST00000589076.6:c.-127-3_-127delinsTAGG
ENST00000589941.2:c.-127-3_-127delinsTAGG
ENST00000590061.2:c.-59-71_-59-68delinsTAGG	ENSP00000464772.2:n.-59-71_-59-68delinsTAGG
ENST00000593223.2:c.-127-3_-127delinsTAGG
ENST00000342988.8:c.-127-3_-127delinsTAGG
ENST00000342988.7:c.-127-3_-127delinsTAGG
ENST00000398417.6:c.-127-3_-127delinsTAGG
ENST00000588256.1:n.335-3_335delinsTAGG
ENST00000588860.5:c.-127-3_-127delinsTAGG
ENST00000589076.5:c.-127-3_-127delinsTAGG
ENST00000589941.1:c.-127-3_-127delinsTAGG
ENST00000590061.1:c.-59-71_-59-68delinsTAGG	ENSP00000464772.1:n.-59-71_-59-68delinsTAGG
ENST00000590722.2:c.158-3_158delinsTAGG
ENST00000591914.5:c.-127-3_-127delinsTAGG
ENST00000592911.5:n.28-1769_28-1766delinsTAGG
NM_005359.5:c.-127-3_-127delinsTAGG , LRG_318t1:c.-127-3_-127delinsTAGG
NM_005359.6:c.-127-3_-127delinsTAGG