Canonical Allele Identifier: CA2838032059

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047079_51047091del , CM000680.2:g.51047079_51047091del	GRCh38
NC_000018.9:g.48573449_48573461del , CM000680.1:g.48573449_48573461del	GRCh37
NC_000018.8:g.46827447_46827459del	NCBI36
NG_013013.2:g.84040_84052del , LRG_318:g.84040_84052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.33_45del	ENSP00000465878.2:p.Ser12ValfsTer2
ENST00000589076.6:c.33_45del	ENSP00000466934.2:p.Ser12ValfsTer2
ENST00000589941.2:c.33_45del	ENSP00000465874.2:p.Ser12ValfsTer2
ENST00000590061.2:c.33_45del	ENSP00000464772.2:p.Ser12ValfsTer2
ENST00000593223.2:c.33_45del	ENSP00000466118.2:p.Ser12ValfsTer2
ENST00000611848.2:c.33_45del	ENSP00000478613.2:p.Ser12ValfsTer2
ENST00000342988.8:c.33_45del MANE Select	ENSP00000341551.3:p.Ser12ValfsTer2
ENST00000342988.7:c.33_45del	ENSP00000341551.3:p.Ser12ValfsTer2
ENST00000398417.6:c.33_45del	ENSP00000381452.1:p.Ser12ValfsTer2
ENST00000588256.1:n.494_506del
ENST00000588745.5:c.33_45del	ENSP00000464901.1:p.Ser12ValfsTer2
ENST00000588860.5:c.33_45del	ENSP00000465878.1:p.Ser12ValfsTer2
ENST00000589076.5:c.33_45del	ENSP00000466934.1:p.Ser12ValfsTer2
ENST00000589941.1:c.33_45del	ENSP00000465874.1:p.Ser12ValfsTer2
ENST00000590061.1:c.33_45del	ENSP00000464772.1:p.Ser12ValfsTer2
ENST00000590722.2:c.*56_*68del	ENSP00000465737.1:n.*56_*68del
ENST00000591914.5:c.33_45del	ENSP00000466941.1:p.Ser12ValfsTer2
ENST00000592186.5:c.33_45del	ENSP00000468611.1:p.Ser12ValfsTer2
ENST00000592911.5:n.28-1607_28-1595del
NM_005359.5:c.33_45del , LRG_318t1:c.33_45del	NP_005350.1:p.Ser12ValfsTer2
NM_005359.6:c.33_45del MANE Select	NP_005350.1:p.Ser12ValfsTer2