Canonical Allele Identifier: CA2580089890

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2129946
• ClinVar RCV Id: RCV003050262

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181446_67181448dup , CM000677.2:g.67181446_67181448dup	GRCh38
NC_000015.9:g.67473784_67473786dup , CM000677.1:g.67473784_67473786dup	GRCh37
NC_000015.8:g.65260838_65260840dup	NCBI36
NG_011990.1:g.120590_120592dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.279_281dup	ENSP00000454165.2:p.Arg93_His94insGln
ENST00000558739.2:c.549_551dup	ENSP00000453684.2:p.Arg183_His184insGln
ENST00000558827.2:c.279_281dup	ENSP00000452767.2:p.Arg93_His94insGln
ENST00000559460.6:c.549_551dup	ENSP00000453082.2:p.Arg183_His184insGln
ENST00000560424.2:c.864_866dup	ENSP00000455540.2:p.Arg288_His289insGln
ENST00000327367.9:c.864_866dup MANE Select	ENSP00000332973.4:p.Arg288_His289insGln
ENST00000679624.1:c.549_551dup	ENSP00000505445.1:p.Arg183_His184insGln
ENST00000680689.1:n.567_569dup
ENST00000681239.1:c.549_551dup	ENSP00000505641.1:p.Arg183_His184insGln
ENST00000327367.8:c.864_866dup	ENSP00000332973.4:p.Arg288_His289insGln
ENST00000439724.7:c.732_734dup	ENSP00000401133.3:p.Arg244_His245insGln
ENST00000537194.6:c.279_281dup	ENSP00000445348.2:p.Arg93_His94insGln
ENST00000540846.6:c.549_551dup	ENSP00000437757.2:p.Arg183_His184insGln
ENST00000558827.1:c.279_281dup	ENSP00000452767.1:p.Arg93_His94insGln
ENST00000558894.5:c.549_551dup	ENSP00000458060.1:p.Arg183_His184insGln
ENST00000560402.1:n.282+6862_282+6864dup
NM_001145102.1:c.549_551dup	NP_001138574.1:p.Arg183_His184insGln
NM_001145103.1:c.732_734dup	NP_001138575.1:p.Arg244_His245insGln
NM_001145104.1:c.279_281dup	NP_001138576.1:p.Arg93_His94insGln
NM_005902.3:c.864_866dup	NP_005893.1:p.Arg288_His289insGln
XM_011521559.1:c.732_734dup	XP_011519861.1:p.Arg244_His245insGln
XM_011521560.1:c.717_719dup	XP_011519862.1:p.Arg239_His240insGln
XM_011521559.3:c.732_734dup	XP_011519861.1:p.Arg244_His245insGln
NM_005902.4:c.864_866dup MANE Select	NP_005893.1:p.Arg288_His289insGln
NM_001145102.2:c.549_551dup	NP_001138574.1:p.Arg183_His184insGln
NM_001145103.2:c.732_734dup	NP_001138575.1:p.Arg244_His245insGln
NM_001145104.2:c.279_281dup	NP_001138576.1:p.Arg93_His94insGln