Canonical Allele Identifier: CA2695227619

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067143_51067144delinsA , CM000680.2:g.51067143_51067144delinsA	GRCh38
NC_000018.9:g.48593513_48593514delinsA , CM000680.1:g.48593513_48593514delinsA	GRCh37
NC_000018.8:g.46847511_46847512delinsA	NCBI36
NG_013013.2:g.104104_104105delinsA , LRG_318:g.104104_104105delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1264_1265delinsA	ENSP00000465878.2:p.Pro422MetfsTer14
ENST00000589076.6:c.1264_1265delinsA	ENSP00000466934.2:p.Pro422MetfsTer14
ENST00000589941.2:c.1264_1265delinsA	ENSP00000465874.2:p.Pro422MetfsTer14
ENST00000590061.2:c.1264_1265delinsA	ENSP00000464772.2:p.Pro422MetfsTer14
ENST00000593223.2:c.1264_1265delinsA	ENSP00000466118.2:p.Pro422MetfsTer14
ENST00000611848.2:c.1264_1265delinsA	ENSP00000478613.2:p.Pro422MetfsTer14
ENST00000684953.1:n.2636_2637delinsA
ENST00000685090.1:n.1715_1716delinsA
ENST00000685232.1:n.1372_1373delinsA
ENST00000688574.1:n.1372_1373delinsA
ENST00000691124.1:n.2746_2747delinsA
ENST00000342988.8:c.1264_1265delinsA MANE Select	ENSP00000341551.3:p.Pro422MetfsTer14
ENST00000342988.7:c.1264_1265delinsA	ENSP00000341551.3:p.Pro422MetfsTer14
ENST00000398417.6:c.1264_1265delinsA	ENSP00000381452.1:p.Pro422MetfsTer14
ENST00000588745.5:c.976_977delinsA	ENSP00000464901.1:p.Pro326MetfsTer14
ENST00000590499.1:n.322_323delinsA
ENST00000591126.5:n.3265_3266delinsA
ENST00000592186.5:c.955+7227_955+7228delinsA	ENSP00000468611.1:n.955+7227_955+7228delinsA
ENST00000593223.1:c.31_32delinsA	ENSP00000466118.1:p.Pro11MetfsTer14
ENST00000611848.1:c.464_465delinsA
NM_005359.5:c.1264_1265delinsA , LRG_318t1:c.1264_1265delinsA	NP_005350.1:p.Pro422MetfsTer14
NM_005359.6:c.1264_1265delinsA MANE Select	NP_005350.1:p.Pro422MetfsTer14