Canonical Allele Identifier: CA2184410638

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165277_67165282delinsGCCACA , CM000677.2:g.67165277_67165282delinsGCCACA	GRCh38
NC_000015.9:g.67457615_67457620delinsGCCACA , CM000677.1:g.67457615_67457620delinsGCCACA	GRCh37
NC_000015.8:g.65244669_65244674delinsGCCACA	NCBI36
NG_011990.1:g.104421_104426delinsGCCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.110_115delinsGCCACA	ENSP00000453684.2:p.Arg37=
ENST00000559460.6:c.110_115delinsGCCACA	ENSP00000453082.2:p.Arg37=
ENST00000560424.2:c.425_430delinsGCCACA	ENSP00000455540.2:p.Arg142=
ENST00000327367.9:c.425_430delinsGCCACA MANE Select	ENSP00000332973.4:p.Arg142=
ENST00000679624.1:c.110_115delinsGCCACA	ENSP00000505445.1:p.Arg37=
ENST00000681239.1:c.110_115delinsGCCACA	ENSP00000505641.1:p.Arg37=
ENST00000327367.8:c.425_430delinsGCCACA	ENSP00000332973.4:p.Arg142=
ENST00000439724.7:c.293_298delinsGCCACA	ENSP00000401133.3:p.Arg98=
ENST00000540846.6:c.110_115delinsGCCACA	ENSP00000437757.2:p.Arg37=
ENST00000558739.1:c.110_115delinsGCCACA	ENSP00000453684.1:p.Arg37=
ENST00000558894.5:c.110_115delinsGCCACA	ENSP00000458060.1:p.Arg37=
ENST00000559460.5:c.110_115delinsGCCACA	ENSP00000453082.1:p.Arg37=
ENST00000559937.1:n.275_280delinsGCCACA
ENST00000560175.5:c.110_115delinsGCCACA	ENSP00000455095.1:p.Arg37=
NM_001145102.1:c.110_115delinsGCCACA	NP_001138574.1:p.Arg37=
NM_001145103.1:c.293_298delinsGCCACA	NP_001138575.1:p.Arg98=
NM_005902.3:c.425_430delinsGCCACA	NP_005893.1:p.Arg142=
XM_011521559.1:c.400+189_400+194delinsGCCACA	XP_011519861.1:n.400+189_400+194delinsGCCACA
XM_011521560.1:c.278_283delinsGCCACA	XP_011519862.1:p.Arg93=
XM_011521559.3:c.400+189_400+194delinsGCCACA	XP_011519861.1:n.400+189_400+194delinsGCCACA
NM_005902.4:c.425_430delinsGCCACA MANE Select	NP_005893.1:p.Arg142=
NM_001145102.2:c.110_115delinsGCCACA	NP_001138574.1:p.Arg37=
NM_001145103.2:c.293_298delinsGCCACA	NP_001138575.1:p.Arg98=