Canonical Allele Identifier: CA2184410286
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164865_67164866delinsCT , CM000677.2:g.67164865_67164866delinsCT GRCh38
NC_000015.9:g.67457203_67457204delinsCT , CM000677.1:g.67457203_67457204delinsCT GRCh37
NC_000015.8:g.65244257_65244258delinsCT NCBI36
NG_011990.1:g.104009_104010delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.-109-30_-109-29delinsCT ENSP00000453684.2:n.-109-30_-109-29delinsCT
ENST00000559460.6:c.-109-30_-109-29delinsCT ENSP00000453082.2:n.-109-30_-109-29delinsCT
ENST00000560424.2:c.207-30_207-29delinsCT ENSP00000455540.2:n.207-30_207-29delinsCT
ENST00000327367.9:c.207-30_207-29delinsCT MANE Select ENSP00000332973.4:n.207-30_207-29delinsCT
ENST00000679624.1:c.-109-30_-109-29delinsCT ENSP00000505445.1:n.-109-30_-109-29delinsCT
ENST00000681239.1:c.-109-30_-109-29delinsCT ENSP00000505641.1:n.-109-30_-109-29delinsCT
ENST00000327367.8:c.207-30_207-29delinsCT ENSP00000332973.4:n.207-30_207-29delinsCT
ENST00000439724.7:c.75-30_75-29delinsCT ENSP00000401133.3:n.75-30_75-29delinsCT
ENST00000540846.6:c.-109-30_-109-29delinsCT ENSP00000437757.2:n.-109-30_-109-29delinsCT
ENST00000558739.1:c.-109-30_-109-29delinsCT ENSP00000453684.1:n.-109-30_-109-29delinsCT
ENST00000558894.5:c.-109-30_-109-29delinsCT ENSP00000458060.1:n.-109-30_-109-29delinsCT
ENST00000559092.1:c.152-30_152-29delinsCT ENSP00000453788.1:n.152-30_152-29delinsCT
ENST00000559460.5:c.-109-30_-109-29delinsCT ENSP00000453082.1:n.-109-30_-109-29delinsCT
ENST00000559937.1:n.57-30_57-29delinsCT
ENST00000560175.5:c.-109-30_-109-29delinsCT ENSP00000455095.1:n.-109-30_-109-29delinsCT
NM_001145102.1:c.-109-30_-109-29delinsCT NP_001138574.1:n.-109-30_-109-29delinsCT
NM_001145103.1:c.75-30_75-29delinsCT NP_001138575.1:n.75-30_75-29delinsCT
NM_005902.3:c.207-30_207-29delinsCT NP_005893.1:n.207-30_207-29delinsCT
XM_011521559.1:c.207-30_207-29delinsCT XP_011519861.1:n.207-30_207-29delinsCT
XM_011521560.1:c.60-30_60-29delinsCT XP_011519862.1:n.60-30_60-29delinsCT
XM_011521559.3:c.207-30_207-29delinsCT XP_011519861.1:n.207-30_207-29delinsCT
NM_005902.4:c.207-30_207-29delinsCT MANE Select NP_005893.1:n.207-30_207-29delinsCT
NM_001145102.2:c.-109-30_-109-29delinsCT NP_001138574.1:n.-109-30_-109-29delinsCT
NM_001145103.2:c.75-30_75-29delinsCT NP_001138575.1:n.75-30_75-29delinsCT