Canonical Allele Identifier: CA2695220922

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165079_67165082dup , CM000677.2:g.67165079_67165082dup	GRCh38
NC_000015.9:g.67457417_67457420dup , CM000677.1:g.67457417_67457420dup	GRCh37
NC_000015.8:g.65244471_65244474dup	NCBI36
NG_011990.1:g.104223_104226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.76_79dup	ENSP00000453684.2:p.Thr27ArgfsTer?
ENST00000559460.6:c.76_79dup	ENSP00000453082.2:p.Thr27ArgfsTer?
ENST00000560424.2:c.391_394dup	ENSP00000455540.2:p.Thr132ArgfsTer?
ENST00000327367.9:c.391_394dup MANE Select	ENSP00000332973.4:p.Thr132ArgfsTer?
ENST00000679624.1:c.76_79dup	ENSP00000505445.1:p.Thr27ArgfsTer?
ENST00000681239.1:c.76_79dup	ENSP00000505641.1:p.Thr27ArgfsTer?
ENST00000327367.8:c.391_394dup	ENSP00000332973.4:p.Thr132ArgfsTer?
ENST00000439724.7:c.259_262dup	ENSP00000401133.3:p.Thr88ArgfsTer?
ENST00000540846.6:c.76_79dup	ENSP00000437757.2:p.Thr27ArgfsTer?
ENST00000558739.1:c.76_79dup	ENSP00000453684.1:p.Thr27ArgfsTer?
ENST00000558894.5:c.76_79dup	ENSP00000458060.1:p.Thr27ArgfsTer?
ENST00000559460.5:c.76_79dup	ENSP00000453082.1:p.Thr27ArgfsTer?
ENST00000559937.1:n.241_244dup
ENST00000560175.5:c.76_79dup	ENSP00000455095.1:p.Thr27ArgfsTer?
NM_001145102.1:c.76_79dup	NP_001138574.1:p.Thr27ArgfsTer?
NM_001145103.1:c.259_262dup	NP_001138575.1:p.Thr88ArgfsTer?
NM_005902.3:c.391_394dup	NP_005893.1:p.Thr132ArgfsTer?
XM_011521559.1:c.391_394dup	XP_011519861.1:p.Thr132ArgfsTer13
XM_011521560.1:c.244_247dup	XP_011519862.1:p.Thr83ArgfsTer?
XM_011521559.3:c.391_394dup	XP_011519861.1:p.Thr132ArgfsTer13
NM_005902.4:c.391_394dup MANE Select	NP_005893.1:p.Thr132ArgfsTer?
NM_001145102.2:c.76_79dup	NP_001138574.1:p.Thr27ArgfsTer?
NM_001145103.2:c.259_262dup	NP_001138575.1:p.Thr88ArgfsTer?