Canonical Allele Identifier: CA2302971872

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047300_51047303delinsGTCT , CM000680.2:g.51047300_51047303delinsGTCT	GRCh38
NC_000018.9:g.48573670_48573673delinsGTCT , CM000680.1:g.48573670_48573673delinsGTCT	GRCh37
NC_000018.8:g.46827668_46827671delinsGTCT	NCBI36
NG_013013.2:g.84261_84264delinsGTCT , LRG_318:g.84261_84264delinsGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.249+5_249+8delinsGTCT	ENSP00000465878.2:n.249+5_249+8delinsGTCT
ENST00000589076.6:c.249+5_249+8delinsGTCT	ENSP00000466934.2:n.249+5_249+8delinsGTCT
ENST00000589941.2:c.249+5_249+8delinsGTCT	ENSP00000465874.2:n.249+5_249+8delinsGTCT
ENST00000590061.2:c.249+5_249+8delinsGTCT	ENSP00000464772.2:n.249+5_249+8delinsGTCT
ENST00000593223.2:c.249+5_249+8delinsGTCT	ENSP00000466118.2:n.249+5_249+8delinsGTCT
ENST00000611848.2:c.249+5_249+8delinsGTCT	ENSP00000478613.2:n.249+5_249+8delinsGTCT
ENST00000342988.8:c.249+5_249+8delinsGTCT MANE Select	ENSP00000341551.3:n.249+5_249+8delinsGTCT
ENST00000342988.7:c.249+5_249+8delinsGTCT	ENSP00000341551.3:n.249+5_249+8delinsGTCT
ENST00000398417.6:c.249+5_249+8delinsGTCT	ENSP00000381452.1:n.249+5_249+8delinsGTCT
ENST00000588745.5:c.249+5_249+8delinsGTCT	ENSP00000464901.1:n.249+5_249+8delinsGTCT
ENST00000588860.5:c.249+5_249+8delinsGTCT	ENSP00000465878.1:n.249+5_249+8delinsGTCT
ENST00000589076.5:c.249+5_249+8delinsGTCT	ENSP00000466934.1:n.249+5_249+8delinsGTCT
ENST00000589706.1:n.117+5_117+8delinsGTCT
ENST00000589941.1:c.249+5_249+8delinsGTCT	ENSP00000465874.1:n.249+5_249+8delinsGTCT
ENST00000590061.1:c.249+5_249+8delinsGTCT	ENSP00000464772.1:n.249+5_249+8delinsGTCT
ENST00000590722.2:c.*272+5_*272+8delinsGTCT	ENSP00000465737.1:n.*272+5_*272+8delinsGTCT
ENST00000591914.5:c.249+5_249+8delinsGTCT	ENSP00000466941.1:n.249+5_249+8delinsGTCT
ENST00000592186.5:c.249+5_249+8delinsGTCT	ENSP00000468611.1:n.249+5_249+8delinsGTCT
ENST00000592911.5:n.28-1386_28-1383delinsGTCT
NM_005359.5:c.249+5_249+8delinsGTCT , LRG_318t1:c.249+5_249+8delinsGTCT	NP_005350.1:n.249+5_249+8delinsGTCT
NM_005359.6:c.249+5_249+8delinsGTCT MANE Select	NP_005350.1:n.249+5_249+8delinsGTCT