Canonical Allele Identifier: CA2302972557

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048655_51048659delinsCACAT , CM000680.2:g.51048655_51048659delinsCACAT	GRCh38
NC_000018.9:g.48575025_48575029delinsCACAT , CM000680.1:g.48575025_48575029delinsCACAT	GRCh37
NC_000018.8:g.46829023_46829027delinsCACAT	NCBI36
NG_013013.2:g.85616_85620delinsCACAT , LRG_318:g.85616_85620delinsCACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.250-31_250-27delinsCACAT	ENSP00000465878.2:n.250-31_250-27delinsCACAT
ENST00000589076.6:c.250-31_250-27delinsCACAT	ENSP00000466934.2:n.250-31_250-27delinsCACAT
ENST00000589941.2:c.250-31_250-27delinsCACAT	ENSP00000465874.2:n.250-31_250-27delinsCACAT
ENST00000590061.2:c.250-31_250-27delinsCACAT	ENSP00000464772.2:n.250-31_250-27delinsCACAT
ENST00000593223.2:c.250-31_250-27delinsCACAT	ENSP00000466118.2:n.250-31_250-27delinsCACAT
ENST00000611848.2:c.250-31_250-27delinsCACAT	ENSP00000478613.2:n.250-31_250-27delinsCACAT
ENST00000342988.8:c.250-31_250-27delinsCACAT MANE Select	ENSP00000341551.3:n.250-31_250-27delinsCACAT
ENST00000342988.7:c.250-31_250-27delinsCACAT	ENSP00000341551.3:n.250-31_250-27delinsCACAT
ENST00000398417.6:c.250-31_250-27delinsCACAT	ENSP00000381452.1:n.250-31_250-27delinsCACAT
ENST00000588745.5:c.250-31_250-27delinsCACAT	ENSP00000464901.1:n.250-31_250-27delinsCACAT
ENST00000588860.5:c.250-31_250-27delinsCACAT	ENSP00000465878.1:n.250-31_250-27delinsCACAT
ENST00000589076.5:c.250-31_250-27delinsCACAT	ENSP00000466934.1:n.250-31_250-27delinsCACAT
ENST00000589706.1:n.118-31_118-27delinsCACAT
ENST00000589941.1:c.250-31_250-27delinsCACAT	ENSP00000465874.1:n.250-31_250-27delinsCACAT
ENST00000590061.1:c.250-31_250-27delinsCACAT	ENSP00000464772.1:n.250-31_250-27delinsCACAT
ENST00000590722.2:c.*273-31_*273-27delinsCACAT	ENSP00000465737.1:n.*273-31_*273-27delinsCACAT
ENST00000591914.5:c.250-31_250-27delinsCACAT	ENSP00000466941.1:n.250-31_250-27delinsCACAT
ENST00000592186.5:c.250-31_250-27delinsCACAT	ENSP00000468611.1:n.250-31_250-27delinsCACAT
ENST00000592911.5:n.28-31_28-27delinsCACAT
NM_005359.5:c.250-31_250-27delinsCACAT , LRG_318t1:c.250-31_250-27delinsCACAT	NP_005350.1:n.250-31_250-27delinsCACAT
NM_005359.6:c.250-31_250-27delinsCACAT MANE Select	NP_005350.1:n.250-31_250-27delinsCACAT