Canonical Allele Identifier: CA2302971705
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51046897_51046898delinsTC , CM000680.2:g.51046897_51046898delinsTC GRCh38
NC_000018.9:g.48573267_48573268delinsTC , CM000680.1:g.48573267_48573268delinsTC GRCh37
NC_000018.8:g.46827265_46827266delinsTC NCBI36
NG_013013.2:g.83858_83859delinsTC , LRG_318:g.83858_83859delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.-127-23_-127-22delinsTC ENSP00000465878.2:n.-127-23_-127-22delinsTC
ENST00000589076.6:c.-127-23_-127-22delinsTC ENSP00000466934.2:n.-127-23_-127-22delinsTC
ENST00000589941.2:c.-127-23_-127-22delinsTC ENSP00000465874.2:n.-127-23_-127-22delinsTC
ENST00000590061.2:c.-59-91_-59-90delinsTC ENSP00000464772.2:n.-59-91_-59-90delinsTC
ENST00000593223.2:c.-127-23_-127-22delinsTC ENSP00000466118.2:n.-127-23_-127-22delinsTC
ENST00000342988.8:c.-127-23_-127-22delinsTC MANE Select ENSP00000341551.3:n.-127-23_-127-22delinsTC
ENST00000342988.7:c.-127-23_-127-22delinsTC ENSP00000341551.3:n.-127-23_-127-22delinsTC
ENST00000398417.6:c.-127-23_-127-22delinsTC ENSP00000381452.1:n.-127-23_-127-22delinsTC
ENST00000588256.1:n.335-23_335-22delinsTC
ENST00000588860.5:c.-127-23_-127-22delinsTC ENSP00000465878.1:n.-127-23_-127-22delinsTC
ENST00000589076.5:c.-127-23_-127-22delinsTC ENSP00000466934.1:n.-127-23_-127-22delinsTC
ENST00000589941.1:c.-127-23_-127-22delinsTC ENSP00000465874.1:n.-127-23_-127-22delinsTC
ENST00000590061.1:c.-59-91_-59-90delinsTC ENSP00000464772.1:n.-59-91_-59-90delinsTC
ENST00000590722.2:c.158-23_158-22delinsTC ENSP00000465737.1:n.158-23_158-22delinsTC
ENST00000591914.5:c.-127-23_-127-22delinsTC ENSP00000466941.1:n.-127-23_-127-22delinsTC
ENST00000592911.5:n.28-1789_28-1788delinsTC
NM_005359.5:c.-127-23_-127-22delinsTC , LRG_318t1:c.-127-23_-127-22delinsTC NP_005350.1:n.-127-23_-127-22delinsTC
NM_005359.6:c.-127-23_-127-22delinsTC MANE Select NP_005350.1:n.-127-23_-127-22delinsTC