Canonical Allele Identifier: CA645609194

Gene: SMAD4

Linked Data

• COSMIC: COSM14177 ; COSM85570

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078356_51078363del , CM000680.2:g.51078356_51078363del	GRCh38
NC_000018.9:g.48604726_48604733del , CM000680.1:g.48604726_48604733del	GRCh37
NC_000018.8:g.46858724_46858731del	NCBI36
NG_013013.2:g.115317_115324del , LRG_318:g.115317_115324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1548_1555del	ENSP00000465878.2:p.Ser517ArgfsTer7
ENST00000589076.6:c.1548_1555del	ENSP00000466934.2:p.Ser517ArgfsTer7
ENST00000589941.2:c.1548_1555del	ENSP00000465874.2:p.Ser517ArgfsTer7
ENST00000590061.2:c.1548_1555del	ENSP00000464772.2:p.Ser517ArgfsTer7
ENST00000593223.2:c.*1545_*1552del	ENSP00000466118.2:n.*1545_*1552del
ENST00000611848.2:c.*200_*207del	ENSP00000478613.2:n.*200_*207del
ENST00000684953.1:n.3563_3570del
ENST00000685090.1:n.3478_3485del
ENST00000685232.1:n.1769_1776del
ENST00000688574.1:n.1656_1663del
ENST00000691124.1:n.4509_4516del
ENST00000342988.8:c.1548_1555del MANE Select	ENSP00000341551.3:p.Ser517ArgfsTer7
ENST00000342988.7:c.1548_1555del	ENSP00000341551.3:p.Ser517ArgfsTer7
ENST00000398417.6:c.1548_1555del	ENSP00000381452.1:p.Ser517ArgfsTer7
ENST00000586253.1:n.270_277del
ENST00000588745.5:c.1260_1267del	ENSP00000464901.1:p.Ser421ArgfsTer7
ENST00000591126.5:n.3549_3556del
ENST00000592186.5:c.1195_1202del	ENSP00000468611.1:n.1195_1202del
ENST00000611848.1:c.861_868del
NM_005359.5:c.1548_1555del , LRG_318t1:c.1548_1555del	NP_005350.1:p.Ser517ArgfsTer7
NM_005359.6:c.1548_1555del MANE Select	NP_005350.1:p.Ser517ArgfsTer7