Canonical Allele Identifier: CA2302980735
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065418_51065421delinsTATA , CM000680.2:g.51065418_51065421delinsTATA GRCh38
NC_000018.9:g.48591788_48591791delinsTATA , CM000680.1:g.48591788_48591791delinsTATA GRCh37
NC_000018.8:g.46845786_46845789delinsTATA NCBI36
NG_013013.2:g.102379_102382delinsTATA , LRG_318:g.102379_102382delinsTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.956-5_956-2delinsTATA ENSP00000465878.2:n.956-5_956-2delinsTATA
ENST00000589076.6:c.956-5_956-2delinsTATA ENSP00000466934.2:n.956-5_956-2delinsTATA
ENST00000589941.2:c.956-5_956-2delinsTATA ENSP00000465874.2:n.956-5_956-2delinsTATA
ENST00000590061.2:c.956-5_956-2delinsTATA ENSP00000464772.2:n.956-5_956-2delinsTATA
ENST00000593223.2:c.956-5_956-2delinsTATA ENSP00000466118.2:n.956-5_956-2delinsTATA
ENST00000611848.2:c.956-5_956-2delinsTATA ENSP00000478613.2:n.956-5_956-2delinsTATA
ENST00000684953.1:n.2328-5_2328-2delinsTATA
ENST00000685090.1:n.1407-5_1407-2delinsTATA
ENST00000685232.1:n.1064-5_1064-2delinsTATA
ENST00000688307.1:n.207-5_207-2delinsTATA
ENST00000688574.1:n.1064-5_1064-2delinsTATA
ENST00000688903.1:n.1170-5_1170-2delinsTATA
ENST00000691124.1:n.2433_2436delinsTATA
ENST00000342988.8:c.956-5_956-2delinsTATA MANE Select ENSP00000341551.3:n.956-5_956-2delinsTATA
ENST00000342988.7:c.956-5_956-2delinsTATA ENSP00000341551.3:n.956-5_956-2delinsTATA
ENST00000398417.6:c.956-5_956-2delinsTATA ENSP00000381452.1:n.956-5_956-2delinsTATA
ENST00000588745.5:c.668-5_668-2delinsTATA ENSP00000464901.1:n.668-5_668-2delinsTATA
ENST00000591126.5:n.2957-5_2957-2delinsTATA
ENST00000592186.5:c.955+5502_955+5505delinsTATA ENSP00000468611.1:n.955+5502_955+5505delinsTATA
ENST00000611848.1:c.156-5_156-2delinsTATA
NM_005359.5:c.956-5_956-2delinsTATA , LRG_318t1:c.956-5_956-2delinsTATA NP_005350.1:n.956-5_956-2delinsTATA
NM_005359.6:c.956-5_956-2delinsTATA MANE Select NP_005350.1:n.956-5_956-2delinsTATA