Canonical Allele Identifier: CA2302986924

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078378_51078382delinsTGGAT , CM000680.2:g.51078378_51078382delinsTGGAT	GRCh38
NC_000018.9:g.48604748_48604752delinsTGGAT , CM000680.1:g.48604748_48604752delinsTGGAT	GRCh37
NC_000018.8:g.46858746_46858750delinsTGGAT	NCBI36
NG_013013.2:g.115339_115343delinsTGGAT , LRG_318:g.115339_115343delinsTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1570_1574delinsTGGAT	ENSP00000465878.2:p.Trp524=
ENST00000589076.6:c.1570_1574delinsTGGAT	ENSP00000466934.2:p.Trp524=
ENST00000589941.2:c.1570_1574delinsTGGAT	ENSP00000465874.2:p.Trp524=
ENST00000590061.2:c.1570_1574delinsTGGAT	ENSP00000464772.2:p.Trp524=
ENST00000593223.2:c.*1567_*1571delinsTGGAT	ENSP00000466118.2:n.*1567_*1571delinsTGGAT
ENST00000611848.2:c.*222_*226delinsTGGAT	ENSP00000478613.2:n.*222_*226delinsTGGAT
ENST00000684953.1:n.3585_3589delinsTGGAT
ENST00000685090.1:n.3500_3504delinsTGGAT
ENST00000685232.1:n.1791_1795delinsTGGAT
ENST00000688574.1:n.1678_1682delinsTGGAT
ENST00000691124.1:n.4531_4535delinsTGGAT
ENST00000342988.8:c.1570_1574delinsTGGAT MANE Select	ENSP00000341551.3:p.Trp524=
ENST00000342988.7:c.1570_1574delinsTGGAT	ENSP00000341551.3:p.Trp524=
ENST00000398417.6:c.1570_1574delinsTGGAT	ENSP00000381452.1:p.Trp524=
ENST00000586253.1:n.292_296delinsTGGAT
ENST00000588745.5:c.1282_1286delinsTGGAT	ENSP00000464901.1:p.Trp428=
ENST00000591126.5:n.3571_3575delinsTGGAT
ENST00000592186.5:c.1217_1221delinsTGGAT	ENSP00000468611.1:n.1217_1221delinsTGGAT
ENST00000611848.1:c.883_887delinsTGGAT
NM_005359.5:c.1570_1574delinsTGGAT , LRG_318t1:c.1570_1574delinsTGGAT	NP_005350.1:p.Trp524=
NM_005359.6:c.1570_1574delinsTGGAT MANE Select	NP_005350.1:p.Trp524=