Canonical Allele Identifier: CA2302986807

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078134_51078135delinsGA , CM000680.2:g.51078134_51078135delinsGA	GRCh38
NC_000018.9:g.48604504_48604505delinsGA , CM000680.1:g.48604504_48604505delinsGA	GRCh37
NC_000018.8:g.46858502_46858503delinsGA	NCBI36
NG_013013.2:g.115095_115096delinsGA , LRG_318:g.115095_115096delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1448-122_1448-121delinsGA	ENSP00000465878.2:n.1448-122_1448-121delinsGA
ENST00000589076.6:c.1448-122_1448-121delinsGA	ENSP00000466934.2:n.1448-122_1448-121delinsGA
ENST00000589941.2:c.1448-122_1448-121delinsGA	ENSP00000465874.2:n.1448-122_1448-121delinsGA
ENST00000590061.2:c.1448-122_1448-121delinsGA	ENSP00000464772.2:n.1448-122_1448-121delinsGA
ENST00000593223.2:c.*1323_*1324delinsGA	ENSP00000466118.2:n.*1323_*1324delinsGA
ENST00000611848.2:c.*100-122_*100-121delinsGA	ENSP00000478613.2:n.*100-122_*100-121delinsGA
ENST00000684953.1:n.3463-122_3463-121delinsGA
ENST00000685090.1:n.3256_3257delinsGA
ENST00000685232.1:n.1669-122_1669-121delinsGA
ENST00000688574.1:n.1556-122_1556-121delinsGA
ENST00000691124.1:n.4287_4288delinsGA
ENST00000342988.8:c.1448-122_1448-121delinsGA MANE Select	ENSP00000341551.3:n.1448-122_1448-121delinsGA
ENST00000342988.7:c.1448-122_1448-121delinsGA	ENSP00000341551.3:n.1448-122_1448-121delinsGA
ENST00000398417.6:c.1448-122_1448-121delinsGA	ENSP00000381452.1:n.1448-122_1448-121delinsGA
ENST00000586253.1:n.170-122_170-121delinsGA
ENST00000588745.5:c.1160-122_1160-121delinsGA	ENSP00000464901.1:n.1160-122_1160-121delinsGA
ENST00000591126.5:n.3449-122_3449-121delinsGA
ENST00000592186.5:c.1095-122_1095-121delinsGA	ENSP00000468611.1:n.1095-122_1095-121delinsGA
ENST00000611848.1:c.761-122_761-121delinsGA
NM_005359.5:c.1448-122_1448-121delinsGA , LRG_318t1:c.1448-122_1448-121delinsGA	NP_005350.1:n.1448-122_1448-121delinsGA
NM_005359.6:c.1448-122_1448-121delinsGA MANE Select	NP_005350.1:n.1448-122_1448-121delinsGA