Canonical Allele Identifier: CA2184410251

Gene: SMAD3

Linked Data

• dbSNP Id: rs1962529667
• gnomAD v4: 15-67164792-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164798_67164801del , CM000677.2:g.67164798_67164801del	GRCh38
NC_000015.9:g.67457136_67457139del , CM000677.1:g.67457136_67457139del	GRCh37
NC_000015.8:g.65244190_65244193del	NCBI36
NG_011990.1:g.103942_103945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-109-97_-109-94del	ENSP00000453684.2:n.-109-97_-109-94del
ENST00000559460.6:c.-109-97_-109-94del	ENSP00000453082.2:n.-109-97_-109-94del
ENST00000560424.2:c.207-97_207-94del	ENSP00000455540.2:n.207-97_207-94del
ENST00000327367.9:c.207-97_207-94del MANE Select	ENSP00000332973.4:n.207-97_207-94del
ENST00000679624.1:c.-109-97_-109-94del	ENSP00000505445.1:n.-109-97_-109-94del
ENST00000681239.1:c.-109-97_-109-94del	ENSP00000505641.1:n.-109-97_-109-94del
ENST00000327367.8:c.207-97_207-94del	ENSP00000332973.4:n.207-97_207-94del
ENST00000439724.7:c.75-97_75-94del	ENSP00000401133.3:n.75-97_75-94del
ENST00000540846.6:c.-109-97_-109-94del	ENSP00000437757.2:n.-109-97_-109-94del
ENST00000558739.1:c.-109-97_-109-94del	ENSP00000453684.1:n.-109-97_-109-94del
ENST00000558894.5:c.-109-97_-109-94del	ENSP00000458060.1:n.-109-97_-109-94del
ENST00000559092.1:c.152-97_152-94del	ENSP00000453788.1:n.152-97_152-94del
ENST00000559460.5:c.-109-97_-109-94del	ENSP00000453082.1:n.-109-97_-109-94del
ENST00000559937.1:n.57-97_57-94del
ENST00000560175.5:c.-109-97_-109-94del	ENSP00000455095.1:n.-109-97_-109-94del
NM_001145102.1:c.-109-97_-109-94del	NP_001138574.1:n.-109-97_-109-94del
NM_001145103.1:c.75-97_75-94del	NP_001138575.1:n.75-97_75-94del
NM_005902.3:c.207-97_207-94del	NP_005893.1:n.207-97_207-94del
XM_011521559.1:c.207-97_207-94del	XP_011519861.1:n.207-97_207-94del
XM_011521560.1:c.60-97_60-94del	XP_011519862.1:n.60-97_60-94del
XM_011521559.3:c.207-97_207-94del	XP_011519861.1:n.207-97_207-94del
NM_005902.4:c.207-97_207-94del MANE Select	NP_005893.1:n.207-97_207-94del
NM_001145102.2:c.-109-97_-109-94del	NP_001138574.1:n.-109-97_-109-94del
NM_001145103.2:c.75-97_75-94del	NP_001138575.1:n.75-97_75-94del