Canonical Allele Identifier: CA6950614

Gene: SMAD9

Linked Data

• dbSNP Id: rs757791385
• ExAC: 13:37453594 CGCCCGTCCAGGGAGCGGGGAATCGTGACGCATTT / C
• gnomAD v2: 13-37453594-CGCCCGTCCAGGGAGCGGGGAATCGTGACGCATTT-C
• MyVariant Identifiers: chr13:g.37453595_37453628del (hg19) ; chr13:g.36879458_36879491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879460_36879493del , CM000675.2:g.36879460_36879493del	GRCh38
NC_000013.10:g.37453597_37453630del , CM000675.1:g.37453597_37453630del	GRCh37
NC_000013.9:g.36351597_36351630del	NCBI36
NG_016963.1:g.45782_45815del , LRG_703:g.45782_45815del

Transcript Alleles

HGVS	Amino-acid change
ENST00000350148.10:c.199_232del	ENSP00000239885.6:p.Lys67GlyfsTer13
ENST00000379826.5:c.199_232del MANE Select	ENSP00000369154.4:p.Lys67GlyfsTer13
ENST00000399275.7:c.199_232del	ENSP00000382216.3:p.Lys67GlyfsTer13
ENST00000350148.9:c.199_232del	ENSP00000239885.6:p.Lys67GlyfsTer13
ENST00000379826.4:c.199_232del	ENSP00000369154.4:p.Lys67GlyfsTer13
ENST00000399275.6:c.199_232del	ENSP00000382216.2:p.Lys67GlyfsTer13
NM_001127217.2:c.199_232del , LRG_703t1:c.199_232del	NP_001120689.1:p.Lys67GlyfsTer13
NM_005905.5:c.199_232del	NP_005896.1:p.Lys67GlyfsTer13
XM_005266401.2:c.199_232del	XP_005266458.1:p.Lys67GlyfsTer13
XM_005266403.2:c.199_232del	XP_005266460.1:p.Lys67GlyfsTer13
XM_005266404.2:c.199_232del	XP_005266461.1:p.Lys67GlyfsTer13
XM_006719827.2:c.199_232del	XP_006719890.1:p.Lys67GlyfsTer13
XM_011535096.1:c.199_232del	XP_011533398.1:p.Lys67GlyfsTer13
XM_005266401.3:c.199_232del	XP_005266458.1:p.Lys67GlyfsTer13
XM_005266403.3:c.199_232del	XP_005266460.1:p.Lys67GlyfsTer13
XM_005266404.3:c.199_232del	XP_005266461.1:p.Lys67GlyfsTer13
XM_006719827.3:c.199_232del	XP_006719890.1:p.Lys67GlyfsTer13
NM_001127217.3:c.199_232del MANE Select	NP_001120689.1:p.Lys67GlyfsTer13
NM_005905.6:c.199_232del	NP_005896.1:p.Lys67GlyfsTer13
NM_001378621.1:c.199_232del	NP_001365550.1:p.Lys67GlyfsTer13