Canonical Allele Identifier: CA915946043

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 817815
• ClinVar RCV Id: RCV001009033
• dbSNP Id: rs1595956573

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181345_67181346insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA , CM000677.2:g.67181345_67181346insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	GRCh38
NC_000015.9:g.67473683_67473684insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA , CM000677.1:g.67473683_67473684insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	GRCh37
NC_000015.8:g.65260737_65260738insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NCBI36
NG_011990.1:g.120489_120490insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000454165.2:p.Met60ThrfsTer19
ENST00000558739.2:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000453684.2:p.Met150ThrfsTer19
ENST00000558827.2:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000452767.2:p.Met60ThrfsTer19
ENST00000559460.6:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000453082.2:p.Met150ThrfsTer19
ENST00000560424.2:c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000455540.2:p.Met255ThrfsTer19
ENST00000327367.9:c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA MANE Select	ENSP00000332973.4:p.Met255ThrfsTer19
ENST00000679624.1:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000505445.1:p.Met150ThrfsTer19
ENST00000680689.1:n.466_467insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA
ENST00000681239.1:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000505641.1:p.Met150ThrfsTer19
ENST00000327367.8:c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000332973.4:p.Met255ThrfsTer19
ENST00000439724.7:c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000401133.3:p.Met211ThrfsTer19
ENST00000537194.6:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000445348.2:p.Met60ThrfsTer19
ENST00000540846.6:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000437757.2:p.Met150ThrfsTer19
ENST00000558428.5:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000454165.1:p.Met60ThrfsTer19
ENST00000558827.1:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000452767.1:p.Met60ThrfsTer19
ENST00000558894.5:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	ENSP00000458060.1:p.Met150ThrfsTer19
ENST00000560402.1:n.282+6761_282+6762insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA
NM_001145102.1:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138574.1:p.Met150ThrfsTer19
NM_001145103.1:c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138575.1:p.Met211ThrfsTer19
NM_001145104.1:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138576.1:p.Met60ThrfsTer19
NM_005902.3:c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_005893.1:p.Met255ThrfsTer19
XM_011521559.1:c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	XP_011519861.1:p.Met211ThrfsTer19
XM_011521560.1:c.616_617insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	XP_011519862.1:p.Met206ThrfsTer19
XM_011521559.3:c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	XP_011519861.1:p.Met211ThrfsTer19
NM_005902.4:c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA MANE Select	NP_005893.1:p.Met255ThrfsTer19
NM_001145102.2:c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138574.1:p.Met150ThrfsTer19
NM_001145103.2:c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138575.1:p.Met211ThrfsTer19
NM_001145104.2:c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA	NP_001138576.1:p.Met60ThrfsTer19