Canonical Allele Identifier: CA2580095892

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054839_51054840del , CM000680.2:g.51054839_51054840del	GRCh38
NC_000018.9:g.48581209_48581210del , CM000680.1:g.48581209_48581210del	GRCh37
NC_000018.8:g.46835207_46835208del	NCBI36
NG_013013.2:g.91800_91801del , LRG_318:g.91800_91801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.513_514del	ENSP00000465878.2:p.Leu172ValfsTer3
ENST00000589076.6:c.513_514del	ENSP00000466934.2:p.Leu172ValfsTer3
ENST00000589941.2:c.513_514del	ENSP00000465874.2:p.Leu172ValfsTer3
ENST00000590061.2:c.513_514del	ENSP00000464772.2:p.Leu172ValfsTer3
ENST00000593223.2:c.513_514del	ENSP00000466118.2:p.Leu172ValfsTer3
ENST00000611848.2:c.513_514del	ENSP00000478613.2:p.Leu172ValfsTer3
ENST00000684953.1:n.1885_1886del
ENST00000688307.1:n.1_2del
ENST00000342988.8:c.513_514del MANE Select	ENSP00000341551.3:p.Leu172ValfsTer3
ENST00000342988.7:c.513_514del	ENSP00000341551.3:p.Leu172ValfsTer3
ENST00000398417.6:c.513_514del	ENSP00000381452.1:p.Leu172ValfsTer3
ENST00000585448.1:n.382_383del
ENST00000588745.5:c.513_514del	ENSP00000464901.1:p.Leu172ValfsTer3
ENST00000590722.2:c.*689_*690del	ENSP00000465737.1:n.*689_*690del
ENST00000591126.5:n.2514_2515del
ENST00000592186.5:c.513_514del	ENSP00000468611.1:p.Leu172ValfsTer3
ENST00000592911.5:n.291_292del
NM_005359.5:c.513_514del , LRG_318t1:c.513_514del	NP_005350.1:p.Leu172ValfsTer3
NM_005359.6:c.513_514del MANE Select	NP_005350.1:p.Leu172ValfsTer3