Canonical Allele Identifier: CA10643343

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311917
• ClinVar RCV Id: RCV000376924
• dbSNP Id: rs578049648
• gnomAD v2: 13-37494321-AGCAGCG-A
• gnomAD v3: 13-36920184-AGCAGCG-A
• gnomAD v4: 13-36920184-AGCAGCG-A
• MyVariant Identifiers: chr13:g.37494322_37494327del (hg19) ; chr13:g.37494324_37494336delinsGGCGGCG (hg19) ; chr13:g.36920185_36920190del (hg38) ; chr13:g.36920187_36920199delinsGGCGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36920187_36920192del , CM000675.2:g.36920187_36920192del	GRCh38
NC_000013.10:g.37494324_37494329del , CM000675.1:g.37494324_37494329del	GRCh37
NC_000013.9:g.36392324_36392329del	NCBI36
NG_016963.1:g.5083_5088del , LRG_703:g.5083_5088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.253+445_253+450del
ENST00000350148.10:c.-261_-256del	ENSP00000239885.6:n.-261_-256del
ENST00000379826.5:c.-261_-256del MANE Select	ENSP00000369154.4:n.-261_-256del
ENST00000350148.9:c.-261_-256del	ENSP00000239885.6:n.-261_-256del
ENST00000379826.4:c.-261_-256del	ENSP00000369154.4:n.-261_-256del
ENST00000483941.1:n.131+445_131+450del
NM_001127217.2:c.-261_-256del , LRG_703t1:c.-261_-256del	NP_001120689.1:n.-261_-256del
NM_005905.5:c.-261_-256del	NP_005896.1:n.-261_-256del
XM_005266403.2:c.-261_-256del	XP_005266460.1:n.-261_-256del
XM_005266404.2:c.-261_-256del	XP_005266461.1:n.-261_-256del
XM_006719827.2:c.-187+445_-187+450del	XP_006719890.1:n.-187+445_-187+450del
XM_005266403.3:c.-261_-256del	XP_005266460.1:n.-261_-256del
XM_005266404.3:c.-261_-256del	XP_005266461.1:n.-261_-256del
XM_006719827.3:c.-187+445_-187+450del	XP_006719890.1:n.-187+445_-187+450del
NM_001127217.3:c.-261_-256del MANE Select	NP_001120689.1:n.-261_-256del
NM_005905.6:c.-261_-256del	NP_005896.1:n.-261_-256del