Canonical Allele Identifier: CA2084883917

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879567_36879569delinsTAG , CM000675.2:g.36879567_36879569delinsTAG	GRCh38
NC_000013.10:g.37453704_37453706delinsTAG , CM000675.1:g.37453704_37453706delinsTAG	GRCh37
NC_000013.9:g.36351704_36351706delinsTAG	NCBI36
NG_016963.1:g.45704_45706delinsCTA , LRG_703:g.45704_45706delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.560_562delinsCTA
ENST00000350148.10:c.121_123delinsCTA	ENSP00000239885.6:p.Leu41=
ENST00000379826.5:c.121_123delinsCTA MANE Select	ENSP00000369154.4:p.Leu41=
ENST00000399275.7:c.121_123delinsCTA	ENSP00000382216.3:p.Leu41=
ENST00000350148.9:c.121_123delinsCTA	ENSP00000239885.6:p.Leu41=
ENST00000379826.4:c.121_123delinsCTA	ENSP00000369154.4:p.Leu41=
ENST00000399275.6:c.121_123delinsCTA	ENSP00000382216.2:p.Leu41=
ENST00000483941.1:n.438_440delinsCTA
NM_001127217.2:c.121_123delinsCTA , LRG_703t1:c.121_123delinsCTA	NP_001120689.1:p.Leu41=
NM_005905.5:c.121_123delinsCTA	NP_005896.1:p.Leu41=
XM_005266401.2:c.121_123delinsCTA	XP_005266458.1:p.Leu41=
XM_005266403.2:c.121_123delinsCTA	XP_005266460.1:p.Leu41=
XM_005266404.2:c.121_123delinsCTA	XP_005266461.1:p.Leu41=
XM_006719827.2:c.121_123delinsCTA	XP_006719890.1:p.Leu41=
XM_011535096.1:c.121_123delinsCTA	XP_011533398.1:p.Leu41=
XM_005266401.3:c.121_123delinsCTA	XP_005266458.1:p.Leu41=
XM_005266403.3:c.121_123delinsCTA	XP_005266460.1:p.Leu41=
XM_005266404.3:c.121_123delinsCTA	XP_005266461.1:p.Leu41=
XM_006719827.3:c.121_123delinsCTA	XP_006719890.1:p.Leu41=
NM_001127217.3:c.121_123delinsCTA MANE Select	NP_001120689.1:p.Leu41=
NM_005905.6:c.121_123delinsCTA	NP_005896.1:p.Leu41=
NM_001378621.1:c.121_123delinsCTA	NP_001365550.1:p.Leu41=