Canonical Allele Identifier: CA2302971547
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51046585_51046586delinsTA , CM000680.2:g.51046585_51046586delinsTA GRCh38
NC_000018.9:g.48572955_48572956delinsTA , CM000680.1:g.48572955_48572956delinsTA GRCh37
NC_000018.8:g.46826953_46826954delinsTA NCBI36
NG_013013.2:g.83546_83547delinsTA , LRG_318:g.83546_83547delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.-127-335_-127-334delinsTA ENSP00000465878.2:n.-127-335_-127-334delinsTA
ENST00000589076.6:c.-127-335_-127-334delinsTA ENSP00000466934.2:n.-127-335_-127-334delinsTA
ENST00000589941.2:c.-127-335_-127-334delinsTA ENSP00000465874.2:n.-127-335_-127-334delinsTA
ENST00000590061.2:c.-59-403_-59-402delinsTA ENSP00000464772.2:n.-59-403_-59-402delinsTA
ENST00000593223.2:c.-127-335_-127-334delinsTA ENSP00000466118.2:n.-127-335_-127-334delinsTA
ENST00000342988.8:c.-127-335_-127-334delinsTA MANE Select ENSP00000341551.3:n.-127-335_-127-334delinsTA
ENST00000342988.7:c.-127-335_-127-334delinsTA ENSP00000341551.3:n.-127-335_-127-334delinsTA
ENST00000398417.6:c.-127-335_-127-334delinsTA ENSP00000381452.1:n.-127-335_-127-334delinsTA
ENST00000588256.1:n.335-335_335-334delinsTA
ENST00000588860.5:c.-127-335_-127-334delinsTA ENSP00000465878.1:n.-127-335_-127-334delinsTA
ENST00000589076.5:c.-127-335_-127-334delinsTA ENSP00000466934.1:n.-127-335_-127-334delinsTA
ENST00000589941.1:c.-127-335_-127-334delinsTA ENSP00000465874.1:n.-127-335_-127-334delinsTA
ENST00000590061.1:c.-59-403_-59-402delinsTA ENSP00000464772.1:n.-59-403_-59-402delinsTA
ENST00000590722.2:c.158-335_158-334delinsTA ENSP00000465737.1:n.158-335_158-334delinsTA
ENST00000591914.5:c.-127-335_-127-334delinsTA ENSP00000466941.1:n.-127-335_-127-334delinsTA
ENST00000592911.5:n.28-2101_28-2100delinsTA
NM_005359.5:c.-127-335_-127-334delinsTA , LRG_318t1:c.-127-335_-127-334delinsTA NP_005350.1:n.-127-335_-127-334delinsTA
NM_005359.6:c.-127-335_-127-334delinsTA MANE Select NP_005350.1:n.-127-335_-127-334delinsTA