Canonical Allele Identifier: CA2184410702

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165284_67165296delinsAGAGATCCCGGCC , CM000677.2:g.67165284_67165296delinsAGAGATCCCGGCC	GRCh38
NC_000015.9:g.67457622_67457634delinsAGAGATCCCGGCC , CM000677.1:g.67457622_67457634delinsAGAGATCCCGGCC	GRCh37
NC_000015.8:g.65244676_65244688delinsAGAGATCCCGGCC	NCBI36
NG_011990.1:g.104428_104440delinsAGAGATCCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.117_129delinsAGAGATCCCGGCC	ENSP00000453684.2:p.Thr39=
ENST00000559460.6:c.117_129delinsAGAGATCCCGGCC	ENSP00000453082.2:p.Thr39=
ENST00000560424.2:c.432_444delinsAGAGATCCCGGCC	ENSP00000455540.2:p.Thr144=
ENST00000327367.9:c.432_444delinsAGAGATCCCGGCC MANE Select	ENSP00000332973.4:p.Thr144=
ENST00000679624.1:c.117_129delinsAGAGATCCCGGCC	ENSP00000505445.1:p.Thr39=
ENST00000681239.1:c.117_129delinsAGAGATCCCGGCC	ENSP00000505641.1:p.Thr39=
ENST00000327367.8:c.432_444delinsAGAGATCCCGGCC	ENSP00000332973.4:p.Thr144=
ENST00000439724.7:c.300_312delinsAGAGATCCCGGCC	ENSP00000401133.3:p.Thr100=
ENST00000540846.6:c.117_129delinsAGAGATCCCGGCC	ENSP00000437757.2:p.Thr39=
ENST00000558739.1:c.117_129delinsAGAGATCCCGGCC	ENSP00000453684.1:p.Thr39=
ENST00000558894.5:c.117_129delinsAGAGATCCCGGCC	ENSP00000458060.1:p.Thr39=
ENST00000559460.5:c.117_129delinsAGAGATCCCGGCC	ENSP00000453082.1:p.Thr39=
ENST00000559937.1:n.282_294delinsAGAGATCCCGGCC
ENST00000560175.5:c.117_129delinsAGAGATCCCGGCC	ENSP00000455095.1:p.Thr39=
NM_001145102.1:c.117_129delinsAGAGATCCCGGCC	NP_001138574.1:p.Thr39=
NM_001145103.1:c.300_312delinsAGAGATCCCGGCC	NP_001138575.1:p.Thr100=
NM_005902.3:c.432_444delinsAGAGATCCCGGCC	NP_005893.1:p.Thr144=
XM_011521559.1:c.400+196_400+208delinsAGAGATCCCGGCC	XP_011519861.1:n.400+196_400+208delinsAGAGATCCCGGCC
XM_011521560.1:c.285_297delinsAGAGATCCCGGCC	XP_011519862.1:p.Thr95=
XM_011521559.3:c.400+196_400+208delinsAGAGATCCCGGCC	XP_011519861.1:n.400+196_400+208delinsAGAGATCCCGGCC
NM_005902.4:c.432_444delinsAGAGATCCCGGCC MANE Select	NP_005893.1:p.Thr144=
NM_001145102.2:c.117_129delinsAGAGATCCCGGCC	NP_001138574.1:p.Thr39=
NM_001145103.2:c.300_312delinsAGAGATCCCGGCC	NP_001138575.1:p.Thr100=