Canonical Allele Identifier: CA658820889

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165253_67165257dup , CM000677.2:g.67165253_67165257dup	GRCh38
NC_000015.9:g.67457591_67457595dup , CM000677.1:g.67457591_67457595dup	GRCh37
NC_000015.8:g.65244645_65244649dup	NCBI36
NG_011990.1:g.104397_104401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.86_90dup	ENSP00000453684.2:p.Pro31PhefsTer?
ENST00000559460.6:c.86_90dup	ENSP00000453082.2:p.Pro31PhefsTer?
ENST00000560424.2:c.401_405dup	ENSP00000455540.2:p.Pro136PhefsTer?
ENST00000327367.9:c.401_405dup MANE Select	ENSP00000332973.4:p.Pro136PhefsTer?
ENST00000679624.1:c.86_90dup	ENSP00000505445.1:p.Pro31PhefsTer?
ENST00000681239.1:c.86_90dup	ENSP00000505641.1:p.Pro31PhefsTer?
ENST00000327367.8:c.401_405dup	ENSP00000332973.4:p.Pro136PhefsTer?
ENST00000439724.7:c.269_273dup	ENSP00000401133.3:p.Pro92PhefsTer?
ENST00000540846.6:c.86_90dup	ENSP00000437757.2:p.Pro31PhefsTer?
ENST00000558739.1:c.86_90dup	ENSP00000453684.1:p.Pro31PhefsTer?
ENST00000558894.5:c.86_90dup	ENSP00000458060.1:p.Pro31PhefsTer?
ENST00000559460.5:c.86_90dup	ENSP00000453082.1:p.Pro31PhefsTer?
ENST00000559937.1:n.251_255dup
ENST00000560175.5:c.86_90dup	ENSP00000455095.1:p.Pro31PhefsTer?
NM_001145102.1:c.86_90dup	NP_001138574.1:p.Pro31PhefsTer?
NM_001145103.1:c.269_273dup	NP_001138575.1:p.Pro92PhefsTer?
NM_005902.3:c.401_405dup	NP_005893.1:p.Pro136PhefsTer?
XM_011521559.1:c.400+165_400+169dup	XP_011519861.1:n.400+165_400+169dup
XM_011521560.1:c.254_258dup	XP_011519862.1:p.Pro87PhefsTer?
XM_011521559.3:c.400+165_400+169dup	XP_011519861.1:n.400+165_400+169dup
NM_005902.4:c.401_405dup MANE Select	NP_005893.1:p.Pro136PhefsTer?
NM_001145102.2:c.86_90dup	NP_001138574.1:p.Pro31PhefsTer?
NM_001145103.2:c.269_273dup	NP_001138575.1:p.Pro92PhefsTer?