Canonical Allele Identifier: CA2825002298

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 3075165
• ClinVar RCV Id: RCV004015691

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184755_67184757dup , CM000677.2:g.67184755_67184757dup	GRCh38
NC_000015.9:g.67477093_67477095dup , CM000677.1:g.67477093_67477095dup	GRCh37
NC_000015.8:g.65264147_65264149dup	NCBI36
NG_011990.1:g.123899_123901dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.315_317dup	ENSP00000454165.2:p.Gly106_Glu107insGly
ENST00000558739.2:c.585_587dup	ENSP00000453684.2:p.Gly196_Glu197insGly
ENST00000558827.2:c.315_317dup	ENSP00000452767.2:p.Gly106_Glu107insGly
ENST00000559460.6:c.585_587dup	ENSP00000453082.2:p.Gly196_Glu197insGly
ENST00000560424.2:c.900_902dup	ENSP00000455540.2:p.Gly301_Glu302insGly
ENST00000327367.9:c.900_902dup MANE Select	ENSP00000332973.4:p.Gly301_Glu302insGly
ENST00000679624.1:c.585_587dup	ENSP00000505445.1:p.Gly196_Glu197insGly
ENST00000680689.1:n.603_605dup
ENST00000681239.1:c.585_587dup	ENSP00000505641.1:p.Gly196_Glu197insGly
ENST00000327367.8:c.900_902dup	ENSP00000332973.4:p.Gly301_Glu302insGly
ENST00000439724.7:c.768_770dup	ENSP00000401133.3:p.Gly257_Glu258insGly
ENST00000537194.6:c.315_317dup	ENSP00000445348.2:p.Gly106_Glu107insGly
ENST00000540846.6:c.585_587dup	ENSP00000437757.2:p.Gly196_Glu197insGly
ENST00000558827.1:c.315_317dup	ENSP00000452767.1:p.Gly106_Glu107insGly
ENST00000558894.5:c.557-2610_557-2608dup	ENSP00000458060.1:n.557-2610_557-2608dup
ENST00000560402.1:n.283-8118_283-8116dup
NM_001145102.1:c.585_587dup	NP_001138574.1:p.Gly196_Glu197insGly
NM_001145103.1:c.768_770dup	NP_001138575.1:p.Gly257_Glu258insGly
NM_001145104.1:c.315_317dup	NP_001138576.1:p.Gly106_Glu107insGly
NM_005902.3:c.900_902dup	NP_005893.1:p.Gly301_Glu302insGly
XM_011521559.1:c.768_770dup	XP_011519861.1:p.Gly257_Glu258insGly
XM_011521560.1:c.753_755dup	XP_011519862.1:p.Gly252_Glu253insGly
XM_011521559.3:c.768_770dup	XP_011519861.1:p.Gly257_Glu258insGly
NM_005902.4:c.900_902dup MANE Select	NP_005893.1:p.Gly301_Glu302insGly
NM_001145102.2:c.585_587dup	NP_001138574.1:p.Gly196_Glu197insGly
NM_001145103.2:c.768_770dup	NP_001138575.1:p.Gly257_Glu258insGly
NM_001145104.2:c.315_317dup	NP_001138576.1:p.Gly106_Glu107insGly