Canonical Allele Identifier: CA6950360

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36853481_36853482insT , CM000675.2:g.36853481_36853482insT	GRCh38
NC_000013.10:g.37427618_37427619insT , CM000675.1:g.37427618_37427619insT	GRCh37
NC_000013.9:g.36325618_36325619insT	NCBI36
NG_016963.1:g.71791_71792insA , LRG_703:g.71791_71792insA

Transcript Alleles

HGVS	Amino-acid Change
NM_001127217.3:c.1197_1198insA MANE Select	NP_001120689.1:p.His400ThrfsTer4
ENST00000379826.5:c.1197_1198insA MANE Select	ENSP00000369154.4:p.His400ThrfsTer4
NM_001127217.2:c.1197_1198insA , LRG_703t1:c.1197_1198insA	NP_001120689.1:p.His400ThrfsTer4
NM_001378621.1:c.1086_1087insA	NP_001365550.1:p.His363ThrfsTer4
NM_005905.5:c.1086_1087insA	NP_005896.1:p.His363ThrfsTer4
NM_005905.6:c.1086_1087insA	NP_005896.1:p.His363ThrfsTer4
ENST00000350148.10:c.1086_1087insA	ENSP00000239885.6:p.His363ThrfsTer4
ENST00000350148.9:c.1086_1087insA	ENSP00000239885.6:p.His363ThrfsTer4
ENST00000379826.4:c.1197_1198insA	ENSP00000369154.4:p.His400ThrfsTer4
ENST00000399275.6:c.1197_1198insA	ENSP00000382216.2:p.His400ThrfsTer4
ENST00000399275.7:c.*796_*797insA	ENSP00000382216.3:n.*796_*797insA
XM_005266401.2:c.1086_1087insA	XP_005266458.1:p.His363ThrfsTer4
XM_005266401.3:c.1086_1087insA	XP_005266458.1:p.His363ThrfsTer4
XM_005266403.2:c.939_940insA	XP_005266460.1:p.His314ThrfsTer4
XM_005266403.3:c.939_940insA	XP_005266460.1:p.His314ThrfsTer4
XM_005266404.2:c.828_829insA	XP_005266461.1:p.His277ThrfsTer4
XM_005266404.3:c.828_829insA	XP_005266461.1:p.His277ThrfsTer4
XM_006719827.2:c.1197_1198insA	XP_006719890.1:p.His400ThrfsTer4
XM_006719827.3:c.1197_1198insA	XP_006719890.1:p.His400ThrfsTer4
XM_011535096.1:c.1197_1198insA	XP_011533398.1:p.His400ThrfsTer4