Canonical Allele Identifier: CA2184369546

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066466_67066470delinsGGAGT , CM000677.2:g.67066466_67066470delinsGGAGT	GRCh38
NC_000015.9:g.67358804_67358808delinsGGAGT , CM000677.1:g.67358804_67358808delinsGGAGT	GRCh37
NC_000015.8:g.65145858_65145862delinsGGAGT	NCBI36
NG_011990.1:g.5610_5614delinsGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2522_-110+2526delinsGGAGT	ENSP00000453082.2:n.-110+2522_-110+2526delinsGGAGT
ENST00000560424.2:c.206+106_206+110delinsGGAGT	ENSP00000455540.2:n.206+106_206+110delinsGGAGT
ENST00000327367.9:c.206+106_206+110delinsGGAGT MANE Select	ENSP00000332973.4:n.206+106_206+110delinsGGAGT
ENST00000327367.8:c.206+106_206+110delinsGGAGT	ENSP00000332973.4:n.206+106_206+110delinsGGAGT
ENST00000559460.5:c.-110+2522_-110+2526delinsGGAGT	ENSP00000453082.1:n.-110+2522_-110+2526delinsGGAGT
NM_005902.3:c.206+106_206+110delinsGGAGT	NP_005893.1:n.206+106_206+110delinsGGAGT
XM_011521559.1:c.206+106_206+110delinsGGAGT	XP_011519861.1:n.206+106_206+110delinsGGAGT
XM_011521559.3:c.206+106_206+110delinsGGAGT	XP_011519861.1:n.206+106_206+110delinsGGAGT
NM_005902.4:c.206+106_206+110delinsGGAGT MANE Select	NP_005893.1:n.206+106_206+110delinsGGAGT