Canonical Allele Identifier: CA645609149

Gene: SMAD4

Linked Data

• COSMIC: COSM14142

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065435_51065441del , CM000680.2:g.51065435_51065441del	GRCh38
NC_000018.9:g.48591805_48591811del , CM000680.1:g.48591805_48591811del	GRCh37
NC_000018.8:g.46845803_46845809del	NCBI36
NG_013013.2:g.102396_102402del , LRG_318:g.102396_102402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.968_974del	ENSP00000465878.2:p.Trp323SerfsTer11
ENST00000589076.6:c.968_974del	ENSP00000466934.2:p.Trp323SerfsTer11
ENST00000589941.2:c.968_974del	ENSP00000465874.2:p.Trp323SerfsTer11
ENST00000590061.2:c.968_974del	ENSP00000464772.2:p.Trp323SerfsTer11
ENST00000593223.2:c.968_974del	ENSP00000466118.2:p.Trp323SerfsTer11
ENST00000611848.2:c.968_974del	ENSP00000478613.2:p.Trp323SerfsTer11
ENST00000684953.1:n.2340_2346del
ENST00000685090.1:n.1419_1425del
ENST00000685232.1:n.1076_1082del
ENST00000688307.1:n.219_225del
ENST00000688574.1:n.1076_1082del
ENST00000688903.1:n.1182_1188del
ENST00000691124.1:n.2450_2456del
ENST00000342988.8:c.968_974del MANE Select	ENSP00000341551.3:p.Trp323SerfsTer11
ENST00000342988.7:c.968_974del	ENSP00000341551.3:p.Trp323SerfsTer11
ENST00000398417.6:c.968_974del	ENSP00000381452.1:p.Trp323SerfsTer11
ENST00000588745.5:c.680_686del	ENSP00000464901.1:p.Trp227SerfsTer11
ENST00000591126.5:n.2969_2975del
ENST00000592186.5:c.955+5519_955+5525del	ENSP00000468611.1:n.955+5519_955+5525del
ENST00000611848.1:c.168_174del
NM_005359.5:c.968_974del , LRG_318t1:c.968_974del	NP_005350.1:p.Trp323SerfsTer11
NM_005359.6:c.968_974del MANE Select	NP_005350.1:p.Trp323SerfsTer11