Canonical Allele Identifier: CA2695227614

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067025_51067042del , CM000680.2:g.51067025_51067042del	GRCh38
NC_000018.9:g.48593395_48593412del , CM000680.1:g.48593395_48593412del	GRCh37
NC_000018.8:g.46847393_46847410del	NCBI36
NG_013013.2:g.103986_104003del , LRG_318:g.103986_104003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1146_1163del	ENSP00000465878.2:p.His382_Val387del
ENST00000589076.6:c.1146_1163del	ENSP00000466934.2:p.His382_Val387del
ENST00000589941.2:c.1146_1163del	ENSP00000465874.2:p.His382_Val387del
ENST00000590061.2:c.1146_1163del	ENSP00000464772.2:p.His382_Val387del
ENST00000593223.2:c.1146_1163del	ENSP00000466118.2:p.His382_Val387del
ENST00000611848.2:c.1146_1163del	ENSP00000478613.2:p.His382_Val387del
ENST00000684953.1:n.2518_2535del
ENST00000685090.1:n.1597_1614del
ENST00000685232.1:n.1254_1271del
ENST00000688574.1:n.1254_1271del
ENST00000691124.1:n.2628_2645del
ENST00000342988.8:c.1146_1163del MANE Select	ENSP00000341551.3:p.His382_Val387del
ENST00000342988.7:c.1146_1163del	ENSP00000341551.3:p.His382_Val387del
ENST00000398417.6:c.1146_1163del	ENSP00000381452.1:p.His382_Val387del
ENST00000588745.5:c.858_875del	ENSP00000464901.1:p.His286_Val291del
ENST00000590499.1:n.204_221del
ENST00000591126.5:n.3147_3164del
ENST00000592186.5:c.955+7109_955+7126del	ENSP00000468611.1:n.955+7109_955+7126del
ENST00000611848.1:c.346_363del
NM_005359.5:c.1146_1163del , LRG_318t1:c.1146_1163del	NP_005350.1:p.His382_Val387del
NM_005359.6:c.1146_1163del MANE Select	NP_005350.1:p.His382_Val387del