Canonical Allele Identifier: CA2731020709

Gene: SMAD3

Linked Data

• dbSNP Id: rs2140188311

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065946_67065951del , CM000677.2:g.67065946_67065951del	GRCh38
NC_000015.9:g.67358284_67358289del , CM000677.1:g.67358284_67358289del	GRCh37
NC_000015.8:g.65145338_65145343del	NCBI36
NG_011990.1:g.5090_5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2002_-110+2007del	ENSP00000453082.2:n.-110+2002_-110+2007del
ENST00000560424.2:c.-209_-204del	ENSP00000455540.2:n.-209_-204del
ENST00000327367.9:c.-209_-204del MANE Select	ENSP00000332973.4:n.-209_-204del
ENST00000327367.8:c.-209_-204del	ENSP00000332973.4:n.-209_-204del
ENST00000559460.5:c.-110+2002_-110+2007del	ENSP00000453082.1:n.-110+2002_-110+2007del
NM_005902.3:c.-209_-204del	NP_005893.1:n.-209_-204del
XM_011521559.1:c.-209_-204del	XP_011519861.1:n.-209_-204del
NM_005902.4:c.-209_-204del MANE Select	NP_005893.1:n.-209_-204del