Canonical Allele Identifier: CA2184414878

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181383_67181384delinsGC , CM000677.2:g.67181383_67181384delinsGC	GRCh38
NC_000015.9:g.67473721_67473722delinsGC , CM000677.1:g.67473721_67473722delinsGC	GRCh37
NC_000015.8:g.65260775_65260776delinsGC	NCBI36
NG_011990.1:g.120527_120528delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.216_217delinsGC	ENSP00000454165.2:p.Glu72=
ENST00000558739.2:c.486_487delinsGC	ENSP00000453684.2:p.Glu162=
ENST00000558827.2:c.216_217delinsGC	ENSP00000452767.2:p.Glu72=
ENST00000559460.6:c.486_487delinsGC	ENSP00000453082.2:p.Glu162=
ENST00000560424.2:c.801_802delinsGC	ENSP00000455540.2:p.Glu267=
ENST00000327367.9:c.801_802delinsGC MANE Select	ENSP00000332973.4:p.Glu267=
ENST00000679624.1:c.486_487delinsGC	ENSP00000505445.1:p.Glu162=
ENST00000680689.1:n.504_505delinsGC
ENST00000681239.1:c.486_487delinsGC	ENSP00000505641.1:p.Glu162=
ENST00000327367.8:c.801_802delinsGC	ENSP00000332973.4:p.Glu267=
ENST00000439724.7:c.669_670delinsGC	ENSP00000401133.3:p.Glu223=
ENST00000537194.6:c.216_217delinsGC	ENSP00000445348.2:p.Glu72=
ENST00000540846.6:c.486_487delinsGC	ENSP00000437757.2:p.Glu162=
ENST00000558428.5:c.216_217delinsGC	ENSP00000454165.1:p.Glu72=
ENST00000558827.1:c.216_217delinsGC	ENSP00000452767.1:p.Glu72=
ENST00000558894.5:c.486_487delinsGC	ENSP00000458060.1:p.Glu162=
ENST00000560402.1:n.282+6799_282+6800delinsGC
NM_001145102.1:c.486_487delinsGC	NP_001138574.1:p.Glu162=
NM_001145103.1:c.669_670delinsGC	NP_001138575.1:p.Glu223=
NM_001145104.1:c.216_217delinsGC	NP_001138576.1:p.Glu72=
NM_005902.3:c.801_802delinsGC	NP_005893.1:p.Glu267=
XM_011521559.1:c.669_670delinsGC	XP_011519861.1:p.Glu223=
XM_011521560.1:c.654_655delinsGC	XP_011519862.1:p.Glu218=
XM_011521559.3:c.669_670delinsGC	XP_011519861.1:p.Glu223=
NM_005902.4:c.801_802delinsGC MANE Select	NP_005893.1:p.Glu267=
NM_001145102.2:c.486_487delinsGC	NP_001138574.1:p.Glu162=
NM_001145103.2:c.669_670delinsGC	NP_001138575.1:p.Glu223=
NM_001145104.2:c.216_217delinsGC	NP_001138576.1:p.Glu72=