Canonical Allele Identifier: CA2580089878

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2006491
• ClinVar RCV Id: RCV002811781

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164885_67164968delinsA , CM000677.2:g.67164885_67164968delinsA	GRCh38
NC_000015.9:g.67457223_67457306delinsA , CM000677.1:g.67457223_67457306delinsA	GRCh37
NC_000015.8:g.65244277_65244360delinsA	NCBI36
NG_011990.1:g.104029_104112delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-109-10_-36delinsA
ENST00000559460.6:c.-109-10_-36delinsA
ENST00000560424.2:c.207-10_280delinsA
ENST00000327367.9:c.207-10_280delinsA
ENST00000679624.1:c.-109-10_-36delinsA
ENST00000681239.1:c.-109-10_-36delinsA
ENST00000327367.8:c.207-10_280delinsA
ENST00000439724.7:c.75-10_148delinsA
ENST00000540846.6:c.-109-10_-36delinsA
ENST00000558739.1:c.-109-10_-36delinsA
ENST00000558894.5:c.-109-10_-36delinsA
ENST00000559092.1:c.152-10_225delinsA
ENST00000559460.5:c.-109-10_-36delinsA
ENST00000559937.1:n.57-10_130delinsA
ENST00000560175.5:c.-109-10_-36delinsA
NM_001145102.1:c.-109-10_-36delinsA
NM_001145103.1:c.75-10_148delinsA
NM_005902.3:c.207-10_280delinsA
XM_011521559.1:c.207-10_280delinsA
XM_011521560.1:c.60-10_133delinsA
XM_011521559.3:c.207-10_280delinsA
NM_005902.4:c.207-10_280delinsA
NM_001145102.2:c.-109-10_-36delinsA
NM_001145103.2:c.75-10_148delinsA