Canonical Allele Identifier: CA2739268753

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2862403
• ClinVar RCV Id: RCV003763398

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059897_51059900del , CM000680.2:g.51059897_51059900del	GRCh38
NC_000018.9:g.48586267_48586270del , CM000680.1:g.48586267_48586270del	GRCh37
NC_000018.8:g.46840265_46840268del	NCBI36
NG_013013.2:g.96858_96861del , LRG_318:g.96858_96861del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.936_939del	ENSP00000465878.2:p.Pro313PhefsTer22
ENST00000589076.6:c.936_939del	ENSP00000466934.2:p.Pro313PhefsTer22
ENST00000589941.2:c.936_939del	ENSP00000465874.2:p.Pro313PhefsTer22
ENST00000590061.2:c.936_939del	ENSP00000464772.2:p.Pro313PhefsTer22
ENST00000593223.2:c.936_939del	ENSP00000466118.2:p.Pro313PhefsTer22
ENST00000611848.2:c.936_939del	ENSP00000478613.2:p.Pro313PhefsTer22
ENST00000684953.1:n.2308_2311del
ENST00000685090.1:n.1387_1390del
ENST00000685232.1:n.1044_1047del
ENST00000688307.1:n.187_190del
ENST00000688574.1:n.1044_1047del
ENST00000688903.1:n.1150_1153del
ENST00000690892.1:n.1044_1047del
ENST00000342988.8:c.936_939del MANE Select	ENSP00000341551.3:p.Pro313PhefsTer22
ENST00000342988.7:c.936_939del	ENSP00000341551.3:p.Pro313PhefsTer22
ENST00000398417.6:c.936_939del	ENSP00000381452.1:p.Pro313PhefsTer22
ENST00000588745.5:c.667+4904_667+4907del	ENSP00000464901.1:n.667+4904_667+4907del
ENST00000591126.5:n.2937_2940del
ENST00000592186.5:c.936_939del	ENSP00000468611.1:p.Pro313PhefsTer?
ENST00000611848.1:c.136_139del
NM_005359.5:c.936_939del , LRG_318t1:c.936_939del	NP_005350.1:p.Pro313PhefsTer22
NM_005359.6:c.936_939del MANE Select	NP_005350.1:p.Pro313PhefsTer22