Canonical Allele Identifier: CA2302987053

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078637_51078638delinsAT , CM000680.2:g.51078637_51078638delinsAT	GRCh38
NC_000018.9:g.48605007_48605008delinsAT , CM000680.1:g.48605007_48605008delinsAT	GRCh37
NC_000018.8:g.46859005_46859006delinsAT	NCBI36
NG_013013.2:g.115598_115599delinsAT , LRG_318:g.115598_115599delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*170_*171delinsAT	ENSP00000465878.2:n.*170_*171delinsAT
ENST00000589076.6:c.*170_*171delinsAT	ENSP00000466934.2:n.*170_*171delinsAT
ENST00000589941.2:c.*170_*171delinsAT	ENSP00000465874.2:n.*170_*171delinsAT
ENST00000590061.2:c.*170_*171delinsAT	ENSP00000464772.2:n.*170_*171delinsAT
ENST00000593223.2:c.*1826_*1827delinsAT	ENSP00000466118.2:n.*1826_*1827delinsAT
ENST00000611848.2:c.*481_*482delinsAT	ENSP00000478613.2:n.*481_*482delinsAT
ENST00000684953.1:n.3844_3845delinsAT
ENST00000685090.1:n.3759_3760delinsAT
ENST00000685232.1:n.2050_2051delinsAT
ENST00000688574.1:n.1937_1938delinsAT
ENST00000691124.1:n.4790_4791delinsAT
ENST00000342988.8:c.*170_*171delinsAT MANE Select	ENSP00000341551.3:n.*170_*171delinsAT
ENST00000342988.7:c.*170_*171delinsAT	ENSP00000341551.3:n.*170_*171delinsAT
ENST00000398417.6:c.*170_*171delinsAT	ENSP00000381452.1:n.*170_*171delinsAT
ENST00000586253.1:n.551_552delinsAT
ENST00000591126.5:n.3830_3831delinsAT
ENST00000611848.1:c.1142_1143delinsAT
NM_005359.5:c.*170_*171delinsAT , LRG_318t1:c.*170_*171delinsAT	NP_005350.1:n.*170_*171delinsAT
NM_005359.6:c.*170_*171delinsAT MANE Select	NP_005350.1:n.*170_*171delinsAT