Canonical Allele Identifier: CA609038729

Gene: SMAD9

Linked Data

• dbSNP Id: rs1266935506
• gnomAD v2: 13-37453457-CTTCT-C
• gnomAD v3: 13-36879320-CTTCT-C
• gnomAD v4: 13-36879320-CTTCT-C
• MyVariant Identifiers: chr13:g.37453458_37453461del (hg19) ; chr13:g.36879321_36879324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879325_36879328del , CM000675.2:g.36879325_36879328del	GRCh38
NC_000013.10:g.37453462_37453465del , CM000675.1:g.37453462_37453465del	GRCh37
NC_000013.9:g.36351462_36351465del	NCBI36
NG_016963.1:g.45949_45952del , LRG_703:g.45949_45952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350148.10:c.366_369del	ENSP00000239885.6:p.Glu123CysfsTer?
ENST00000379826.5:c.366_369del MANE Select	ENSP00000369154.4:p.Glu123CysfsTer?
ENST00000399275.7:c.366_369del	ENSP00000382216.3:p.Glu123CysfsTer19
ENST00000350148.9:c.366_369del	ENSP00000239885.6:p.Glu123CysfsTer?
ENST00000379826.4:c.366_369del	ENSP00000369154.4:p.Glu123CysfsTer?
ENST00000399275.6:c.366_369del	ENSP00000382216.2:p.Glu123CysfsTer?
NM_001127217.2:c.366_369del , LRG_703t1:c.366_369del	NP_001120689.1:p.Glu123CysfsTer?
NM_005905.5:c.366_369del	NP_005896.1:p.Glu123CysfsTer?
XM_005266401.2:c.366_369del	XP_005266458.1:p.Glu123CysfsTer?
XM_005266403.2:c.366_369del	XP_005266460.1:p.Glu123CysfsTer?
XM_005266404.2:c.366_369del	XP_005266461.1:p.Glu123CysfsTer?
XM_006719827.2:c.366_369del	XP_006719890.1:p.Glu123CysfsTer?
XM_011535096.1:c.366_369del	XP_011533398.1:p.Glu123CysfsTer?
XM_005266401.3:c.366_369del	XP_005266458.1:p.Glu123CysfsTer?
XM_005266403.3:c.366_369del	XP_005266460.1:p.Glu123CysfsTer?
XM_005266404.3:c.366_369del	XP_005266461.1:p.Glu123CysfsTer?
XM_006719827.3:c.366_369del	XP_006719890.1:p.Glu123CysfsTer?
NM_001127217.3:c.366_369del MANE Select	NP_001120689.1:p.Glu123CysfsTer?
NM_005905.6:c.366_369del	NP_005896.1:p.Glu123CysfsTer?
NM_001378621.1:c.366_369del	NP_001365550.1:p.Glu123CysfsTer?