Canonical Allele Identifier: CA2629117491

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67165143-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165143_67165144insT , CM000677.2:g.67165143_67165144insT	GRCh38
NC_000015.9:g.67457481_67457482insT , CM000677.1:g.67457481_67457482insT	GRCh37
NC_000015.8:g.65244535_65244536insT	NCBI36
NG_011990.1:g.104287_104288insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.85+55_85+56insT	ENSP00000453684.2:n.85+55_85+56insT
ENST00000559460.6:c.85+55_85+56insT	ENSP00000453082.2:n.85+55_85+56insT
ENST00000560424.2:c.400+55_400+56insT	ENSP00000455540.2:n.400+55_400+56insT
ENST00000327367.9:c.400+55_400+56insT MANE Select	ENSP00000332973.4:n.400+55_400+56insT
ENST00000679624.1:c.85+55_85+56insT	ENSP00000505445.1:n.85+55_85+56insT
ENST00000681239.1:c.85+55_85+56insT	ENSP00000505641.1:n.85+55_85+56insT
ENST00000327367.8:c.400+55_400+56insT	ENSP00000332973.4:n.400+55_400+56insT
ENST00000439724.7:c.268+55_268+56insT	ENSP00000401133.3:n.268+55_268+56insT
ENST00000540846.6:c.85+55_85+56insT	ENSP00000437757.2:n.85+55_85+56insT
ENST00000558739.1:c.85+55_85+56insT	ENSP00000453684.1:n.85+55_85+56insT
ENST00000558894.5:c.85+55_85+56insT	ENSP00000458060.1:n.85+55_85+56insT
ENST00000559460.5:c.85+55_85+56insT	ENSP00000453082.1:n.85+55_85+56insT
ENST00000559937.1:n.250+55_250+56insT
ENST00000560175.5:c.85+55_85+56insT	ENSP00000455095.1:n.85+55_85+56insT
NM_001145102.1:c.85+55_85+56insT	NP_001138574.1:n.85+55_85+56insT
NM_001145103.1:c.268+55_268+56insT	NP_001138575.1:n.268+55_268+56insT
NM_005902.3:c.400+55_400+56insT	NP_005893.1:n.400+55_400+56insT
XM_011521559.1:c.400+55_400+56insT	XP_011519861.1:n.400+55_400+56insT
XM_011521560.1:c.253+55_253+56insT	XP_011519862.1:n.253+55_253+56insT
XM_011521559.3:c.400+55_400+56insT	XP_011519861.1:n.400+55_400+56insT
NM_005902.4:c.400+55_400+56insT MANE Select	NP_005893.1:n.400+55_400+56insT
NM_001145102.2:c.85+55_85+56insT	NP_001138574.1:n.85+55_85+56insT
NM_001145103.2:c.268+55_268+56insT	NP_001138575.1:n.268+55_268+56insT