Canonical Allele Identifier: CA2622694004

Gene: SMAD9

Linked Data

• gnomAD v4: 13-36879289-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879292del , CM000675.2:g.36879292del	GRCh38
NC_000013.10:g.37453429del , CM000675.1:g.37453429del	GRCh37
NC_000013.9:g.36351429del	NCBI36
NG_016963.1:g.45983del , LRG_703:g.45983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350148.10:c.400del	ENSP00000239885.6:p.Val134TrpfsTer?
ENST00000379826.5:c.400del MANE Select	ENSP00000369154.4:p.Val134TrpfsTer?
ENST00000399275.7:c.400del	ENSP00000382216.3:p.Val134TrpfsTer9
ENST00000350148.9:c.400del	ENSP00000239885.6:p.Val134TrpfsTer?
ENST00000379826.4:c.400del	ENSP00000369154.4:p.Val134TrpfsTer?
ENST00000399275.6:c.400del	ENSP00000382216.2:p.Val134TrpfsTer?
NM_001127217.2:c.400del , LRG_703t1:c.400del	NP_001120689.1:p.Val134TrpfsTer?
NM_005905.5:c.400del	NP_005896.1:p.Val134TrpfsTer?
XM_005266401.2:c.400del	XP_005266458.1:p.Val134TrpfsTer?
XM_005266403.2:c.400del	XP_005266460.1:p.Val134TrpfsTer26
XM_005266404.2:c.400del	XP_005266461.1:p.Val134TrpfsTer25
XM_006719827.2:c.400del	XP_006719890.1:p.Val134TrpfsTer?
XM_011535096.1:c.400del	XP_011533398.1:p.Val134TrpfsTer?
XM_005266401.3:c.400del	XP_005266458.1:p.Val134TrpfsTer?
XM_005266403.3:c.400del	XP_005266460.1:p.Val134TrpfsTer26
XM_005266404.3:c.400del	XP_005266461.1:p.Val134TrpfsTer25
XM_006719827.3:c.400del	XP_006719890.1:p.Val134TrpfsTer?
NM_001127217.3:c.400del MANE Select	NP_001120689.1:p.Val134TrpfsTer?
NM_005905.6:c.400del	NP_005896.1:p.Val134TrpfsTer?
NM_001378621.1:c.400del	NP_001365550.1:p.Val134TrpfsTer?