Canonical Allele Identifier: CA658820888

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164988_67164989insAGGGCCGGCAGGC , CM000677.2:g.67164988_67164989insAGGGCCGGCAGGC	GRCh38
NC_000015.9:g.67457326_67457327insAGGGCCGGCAGGC , CM000677.1:g.67457326_67457327insAGGGCCGGCAGGC	GRCh37
NC_000015.8:g.65244380_65244381insAGGGCCGGCAGGC	NCBI36
NG_011990.1:g.104132_104133insAGGGCCGGCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-16_-15insAGGGCCGGCAGGC	ENSP00000453684.2:n.-16_-15insAGGGCCGGCAGGC
ENST00000559460.6:c.-16_-15insAGGGCCGGCAGGC	ENSP00000453082.2:n.-16_-15insAGGGCCGGCAGGC
ENST00000560424.2:c.300_301insAGGGCCGGCAGGC	ENSP00000455540.2:p.His101ArgfsTer14
ENST00000327367.9:c.300_301insAGGGCCGGCAGGC MANE Select	ENSP00000332973.4:p.His101ArgfsTer14
ENST00000679624.1:c.-16_-15insAGGGCCGGCAGGC	ENSP00000505445.1:n.-16_-15insAGGGCCGGCAGGC
ENST00000681239.1:c.-16_-15insAGGGCCGGCAGGC	ENSP00000505641.1:n.-16_-15insAGGGCCGGCAGGC
ENST00000327367.8:c.300_301insAGGGCCGGCAGGC	ENSP00000332973.4:p.His101ArgfsTer14
ENST00000439724.7:c.168_169insAGGGCCGGCAGGC	ENSP00000401133.3:p.His57ArgfsTer14
ENST00000540846.6:c.-16_-15insAGGGCCGGCAGGC	ENSP00000437757.2:n.-16_-15insAGGGCCGGCAGGC
ENST00000558739.1:c.-16_-15insAGGGCCGGCAGGC	ENSP00000453684.1:n.-16_-15insAGGGCCGGCAGGC
ENST00000558894.5:c.-16_-15insAGGGCCGGCAGGC	ENSP00000458060.1:n.-16_-15insAGGGCCGGCAGGC
ENST00000559092.1:c.245_246insAGGGCCGGCAGGC	ENSP00000453788.1:p.Thr83GlyfsTer?
ENST00000559460.5:c.-16_-15insAGGGCCGGCAGGC	ENSP00000453082.1:n.-16_-15insAGGGCCGGCAGGC
ENST00000559937.1:n.150_151insAGGGCCGGCAGGC
ENST00000560175.5:c.-16_-15insAGGGCCGGCAGGC	ENSP00000455095.1:n.-16_-15insAGGGCCGGCAGGC
NM_001145102.1:c.-16_-15insAGGGCCGGCAGGC	NP_001138574.1:n.-16_-15insAGGGCCGGCAGGC
NM_001145103.1:c.168_169insAGGGCCGGCAGGC	NP_001138575.1:p.His57ArgfsTer14
NM_005902.3:c.300_301insAGGGCCGGCAGGC	NP_005893.1:p.His101ArgfsTer14
XM_011521559.1:c.300_301insAGGGCCGGCAGGC	XP_011519861.1:p.His101ArgfsTer14
XM_011521560.1:c.153_154insAGGGCCGGCAGGC	XP_011519862.1:p.His52ArgfsTer14
XM_011521559.3:c.300_301insAGGGCCGGCAGGC	XP_011519861.1:p.His101ArgfsTer14
NM_005902.4:c.300_301insAGGGCCGGCAGGC MANE Select	NP_005893.1:p.His101ArgfsTer14
NM_001145102.2:c.-16_-15insAGGGCCGGCAGGC	NP_001138574.1:n.-16_-15insAGGGCCGGCAGGC
NM_001145103.2:c.168_169insAGGGCCGGCAGGC	NP_001138575.1:p.His57ArgfsTer14