Canonical Allele Identifier: CA715067682

Gene: SMAD3

Linked Data

• dbSNP Id: rs1409377708
• MyVariant Identifiers: chr15:g.67457306_67457307insGGCCAGACCTGCAC (hg19) ; chr15:g.67164968_67164969insGGCCAGACCTGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164969_67164982dup , CM000677.2:g.67164969_67164982dup	GRCh38
NC_000015.9:g.67457307_67457320dup , CM000677.1:g.67457307_67457320dup	GRCh37
NC_000015.8:g.65244361_65244374dup	NCBI36
NG_011990.1:g.104113_104126dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-35_-22dup	ENSP00000453684.2:n.-35_-22dup
ENST00000559460.6:c.-35_-22dup	ENSP00000453082.2:n.-35_-22dup
ENST00000560424.2:c.281_294dup	ENSP00000455540.2:p.Ser99GlyfsTer22
ENST00000327367.9:c.281_294dup MANE Select	ENSP00000332973.4:p.Ser99GlyfsTer22
ENST00000679624.1:c.-35_-22dup	ENSP00000505445.1:n.-35_-22dup
ENST00000681239.1:c.-35_-22dup	ENSP00000505641.1:n.-35_-22dup
ENST00000327367.8:c.281_294dup	ENSP00000332973.4:p.Ser99GlyfsTer22
ENST00000439724.7:c.149_162dup	ENSP00000401133.3:p.Ser55GlyfsTer22
ENST00000540846.6:c.-35_-22dup	ENSP00000437757.2:n.-35_-22dup
ENST00000558739.1:c.-35_-22dup	ENSP00000453684.1:n.-35_-22dup
ENST00000558894.5:c.-35_-22dup	ENSP00000458060.1:n.-35_-22dup
ENST00000559092.1:c.226_239dup	ENSP00000453788.1:p.Thr82ArgfsTer15
ENST00000559460.5:c.-35_-22dup	ENSP00000453082.1:n.-35_-22dup
ENST00000559937.1:n.131_144dup
ENST00000560175.5:c.-35_-22dup	ENSP00000455095.1:n.-35_-22dup
NM_001145102.1:c.-35_-22dup	NP_001138574.1:n.-35_-22dup
NM_001145103.1:c.149_162dup	NP_001138575.1:p.Ser55GlyfsTer22
NM_005902.3:c.281_294dup	NP_005893.1:p.Ser99GlyfsTer22
XM_011521559.1:c.281_294dup	XP_011519861.1:p.Ser99GlyfsTer22
XM_011521560.1:c.134_147dup	XP_011519862.1:p.Ser50GlyfsTer22
XM_011521559.3:c.281_294dup	XP_011519861.1:p.Ser99GlyfsTer22
NM_005902.4:c.281_294dup MANE Select	NP_005893.1:p.Ser99GlyfsTer22
NM_001145102.2:c.-35_-22dup	NP_001138574.1:n.-35_-22dup
NM_001145103.2:c.149_162dup	NP_001138575.1:p.Ser55GlyfsTer22