Canonical Allele Identifier: CA2843204193

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165038dup , CM000677.2:g.67165038dup	GRCh38
NC_000015.9:g.67457376dup , CM000677.1:g.67457376dup	GRCh37
NC_000015.8:g.65244430dup	NCBI36
NG_011990.1:g.104182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.35dup	ENSP00000453684.2:p.Asp13GlyfsTer?
ENST00000559460.6:c.35dup	ENSP00000453082.2:p.Asp13GlyfsTer?
ENST00000560424.2:c.350dup	ENSP00000455540.2:p.Asp118GlyfsTer?
ENST00000327367.9:c.350dup MANE Select	ENSP00000332973.4:p.Asp118GlyfsTer?
ENST00000679624.1:c.35dup	ENSP00000505445.1:p.Asp13GlyfsTer?
ENST00000681239.1:c.35dup	ENSP00000505641.1:p.Asp13GlyfsTer?
ENST00000327367.8:c.350dup	ENSP00000332973.4:p.Asp118GlyfsTer?
ENST00000439724.7:c.218dup	ENSP00000401133.3:p.Asp74GlyfsTer?
ENST00000540846.6:c.35dup	ENSP00000437757.2:p.Asp13GlyfsTer?
ENST00000558739.1:c.35dup	ENSP00000453684.1:p.Asp13GlyfsTer?
ENST00000558894.5:c.35dup	ENSP00000458060.1:p.Asp13GlyfsTer?
ENST00000559460.5:c.35dup	ENSP00000453082.1:p.Asp13GlyfsTer?
ENST00000559937.1:n.200dup
ENST00000560175.5:c.35dup	ENSP00000455095.1:p.Asp13GlyfsTer?
NM_001145102.1:c.35dup	NP_001138574.1:p.Asp13GlyfsTer?
NM_001145103.1:c.218dup	NP_001138575.1:p.Asp74GlyfsTer?
NM_005902.3:c.350dup	NP_005893.1:p.Asp118GlyfsTer?
XM_011521559.1:c.350dup	XP_011519861.1:p.Asp118GlyfsTer26
XM_011521560.1:c.203dup	XP_011519862.1:p.Asp69GlyfsTer?
XM_011521559.3:c.350dup	XP_011519861.1:p.Asp118GlyfsTer26
NM_005902.4:c.350dup MANE Select	NP_005893.1:p.Asp118GlyfsTer?
NM_001145102.2:c.35dup	NP_001138574.1:p.Asp13GlyfsTer?
NM_001145103.2:c.218dup	NP_001138575.1:p.Asp74GlyfsTer?