Canonical Allele Identifier: CA2500402970

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51077974_51077975del , CM000680.2:g.51077974_51077975del	GRCh38
NC_000018.9:g.48604344_48604345del , CM000680.1:g.48604344_48604345del	GRCh37
NC_000018.8:g.46858342_46858343del	NCBI36
NG_013013.2:g.114935_114936del , LRG_318:g.114935_114936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-282_1448-281del	ENSP00000465878.2:n.1448-282_1448-281del
ENST00000589076.6:c.1448-282_1448-281del	ENSP00000466934.2:n.1448-282_1448-281del
ENST00000589941.2:c.1448-282_1448-281del	ENSP00000465874.2:n.1448-282_1448-281del
ENST00000590061.2:c.1448-282_1448-281del	ENSP00000464772.2:n.1448-282_1448-281del
ENST00000593223.2:c.*1163_*1164del	ENSP00000466118.2:n.*1163_*1164del
ENST00000611848.2:c.*100-282_*100-281del	ENSP00000478613.2:n.*100-282_*100-281del
ENST00000684953.1:n.3463-282_3463-281del
ENST00000685090.1:n.3096_3097del
ENST00000685232.1:n.1669-282_1669-281del
ENST00000688574.1:n.1556-282_1556-281del
ENST00000691124.1:n.4127_4128del
ENST00000342988.8:c.1448-282_1448-281del MANE Select	ENSP00000341551.3:n.1448-282_1448-281del
ENST00000342988.7:c.1448-282_1448-281del	ENSP00000341551.3:n.1448-282_1448-281del
ENST00000398417.6:c.1448-282_1448-281del	ENSP00000381452.1:n.1448-282_1448-281del
ENST00000586253.1:n.170-282_170-281del
ENST00000588745.5:c.1160-282_1160-281del	ENSP00000464901.1:n.1160-282_1160-281del
ENST00000591126.5:n.3449-282_3449-281del
ENST00000592186.5:c.1095-282_1095-281del	ENSP00000468611.1:n.1095-282_1095-281del
ENST00000611848.1:c.761-282_761-281del
NM_005359.5:c.1448-282_1448-281del , LRG_318t1:c.1448-282_1448-281del	NP_005350.1:n.1448-282_1448-281del
NM_005359.6:c.1448-282_1448-281del MANE Select	NP_005350.1:n.1448-282_1448-281del