Canonical Allele Identifier: CA609038739

Gene: SMAD9

Linked Data

• dbSNP Id: rs1566026123
• gnomAD v2: 13-37453537-C-CGAA
• gnomAD v4: 13-36879400-C-CGAA
• MyVariant Identifiers: chr13:g.37453537_37453538insGAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879401_36879402insAAG , CM000675.2:g.36879401_36879402insAAG	GRCh38
NC_000013.10:g.37453538_37453539insAAG , CM000675.1:g.37453538_37453539insAAG	GRCh37
NC_000013.9:g.36351538_36351539insAAG	NCBI36
NG_016963.1:g.45872_45873insTTC , LRG_703:g.45872_45873insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350148.10:c.289_290insTTC	ENSP00000239885.6:p.Trp96_Arg97insLeu
ENST00000379826.5:c.289_290insTTC MANE Select	ENSP00000369154.4:p.Trp96_Arg97insLeu
ENST00000399275.7:c.289_290insTTC	ENSP00000382216.3:p.Trp96_Arg97insLeu
ENST00000350148.9:c.289_290insTTC	ENSP00000239885.6:p.Trp96_Arg97insLeu
ENST00000379826.4:c.289_290insTTC	ENSP00000369154.4:p.Trp96_Arg97insLeu
ENST00000399275.6:c.289_290insTTC	ENSP00000382216.2:p.Trp96_Arg97insLeu
NM_001127217.2:c.289_290insTTC , LRG_703t1:c.289_290insTTC	NP_001120689.1:p.Trp96_Arg97insLeu
NM_005905.5:c.289_290insTTC	NP_005896.1:p.Trp96_Arg97insLeu
XM_005266401.2:c.289_290insTTC	XP_005266458.1:p.Trp96_Arg97insLeu
XM_005266403.2:c.289_290insTTC	XP_005266460.1:p.Trp96_Arg97insLeu
XM_005266404.2:c.289_290insTTC	XP_005266461.1:p.Trp96_Arg97insLeu
XM_006719827.2:c.289_290insTTC	XP_006719890.1:p.Trp96_Arg97insLeu
XM_011535096.1:c.289_290insTTC	XP_011533398.1:p.Trp96_Arg97insLeu
XM_005266401.3:c.289_290insTTC	XP_005266458.1:p.Trp96_Arg97insLeu
XM_005266403.3:c.289_290insTTC	XP_005266460.1:p.Trp96_Arg97insLeu
XM_005266404.3:c.289_290insTTC	XP_005266461.1:p.Trp96_Arg97insLeu
XM_006719827.3:c.289_290insTTC	XP_006719890.1:p.Trp96_Arg97insLeu
NM_001127217.3:c.289_290insTTC MANE Select	NP_001120689.1:p.Trp96_Arg97insLeu
NM_005905.6:c.289_290insTTC	NP_005896.1:p.Trp96_Arg97insLeu
NM_001378621.1:c.289_290insTTC	NP_001365550.1:p.Trp96_Arg97insLeu