Canonical Allele Identifier: CA919580154

Gene: SMAD3

Linked Data

• dbSNP Id: rs1595942281

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165345_67165348del , CM000677.2:g.67165345_67165348del	GRCh38
NC_000015.9:g.67457683_67457686del , CM000677.1:g.67457683_67457686del	GRCh37
NC_000015.8:g.65244737_65244740del	NCBI36
NG_011990.1:g.104489_104492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.178_181del	ENSP00000453684.2:p.Asn60SerfsTer20
ENST00000559460.6:c.178_181del	ENSP00000453082.2:p.Asn60SerfsTer20
ENST00000560424.2:c.493_496del	ENSP00000455540.2:p.Asn165SerfsTer20
ENST00000327367.9:c.493_496del MANE Select	ENSP00000332973.4:p.Asn165SerfsTer20
ENST00000679624.1:c.178_181del	ENSP00000505445.1:p.Asn60SerfsTer20
ENST00000681239.1:c.178_181del	ENSP00000505641.1:p.Asn60SerfsTer20
ENST00000327367.8:c.493_496del	ENSP00000332973.4:p.Asn165SerfsTer20
ENST00000439724.7:c.361_364del	ENSP00000401133.3:p.Asn121SerfsTer20
ENST00000540846.6:c.178_181del	ENSP00000437757.2:p.Asn60SerfsTer20
ENST00000558739.1:c.178_181del	ENSP00000453684.1:p.Asn60SerfsTer?
ENST00000558894.5:c.178_181del	ENSP00000458060.1:p.Asn60SerfsTer20
ENST00000559460.5:c.178_181del	ENSP00000453082.1:p.Asn60SerfsTer20
ENST00000559937.1:n.343_346del
ENST00000560175.5:c.178_181del	ENSP00000455095.1:p.Asn60SerfsTer20
NM_001145102.1:c.178_181del	NP_001138574.1:p.Asn60SerfsTer20
NM_001145103.1:c.361_364del	NP_001138575.1:p.Asn121SerfsTer20
NM_005902.3:c.493_496del	NP_005893.1:p.Asn165SerfsTer20
XM_011521559.1:c.400+257_400+260del	XP_011519861.1:n.400+257_400+260del
XM_011521560.1:c.346_349del	XP_011519862.1:p.Asn116SerfsTer20
XM_011521559.3:c.400+257_400+260del	XP_011519861.1:n.400+257_400+260del
NM_005902.4:c.493_496del MANE Select	NP_005893.1:p.Asn165SerfsTer20
NM_001145102.2:c.178_181del	NP_001138574.1:p.Asn60SerfsTer20
NM_001145103.2:c.361_364del	NP_001138575.1:p.Asn121SerfsTer20