Canonical Allele Identifier: CA10639432

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311915
• ClinVar RCV Id: RCV000286493
• dbSNP Id: rs886050176
• gnomAD v2: 13-37494321-A-AGCG
• gnomAD v3: 13-36920184-A-AGCG
• gnomAD v4: 13-36920184-A-AGCG
• MyVariant Identifiers: chr13:g.37494324_37494336delinsGGCAGCGGCGGCGGCG (hg19) ; chr13:g.37494321_37494322insGCG (hg19) ; chr13:g.36920187_36920199delinsGGCAGCGGCGGCGGCG (hg38) ; chr13:g.36920184_36920185insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36920186_36920187insGGC , CM000675.2:g.36920186_36920187insGGC	GRCh38
NC_000013.10:g.37494323_37494324insGGC , CM000675.1:g.37494323_37494324insGGC	GRCh37
NC_000013.9:g.36392323_36392324insGGC	NCBI36
NG_016963.1:g.5088_5089insCGC , LRG_703:g.5088_5089insCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.253+450_253+451insCGC
ENST00000350148.10:c.-256_-255insCGC	ENSP00000239885.6:n.-256_-255insCGC
ENST00000379826.5:c.-256_-255insCGC MANE Select	ENSP00000369154.4:n.-256_-255insCGC
ENST00000350148.9:c.-256_-255insCGC	ENSP00000239885.6:n.-256_-255insCGC
ENST00000379826.4:c.-256_-255insCGC	ENSP00000369154.4:n.-256_-255insCGC
ENST00000483941.1:n.131+450_131+451insCGC
NM_001127217.2:c.-256_-255insCGC , LRG_703t1:c.-256_-255insCGC	NP_001120689.1:n.-256_-255insCGC
NM_005905.5:c.-256_-255insCGC	NP_005896.1:n.-256_-255insCGC
XM_005266403.2:c.-256_-255insCGC	XP_005266460.1:n.-256_-255insCGC
XM_005266404.2:c.-256_-255insCGC	XP_005266461.1:n.-256_-255insCGC
XM_006719827.2:c.-187+450_-187+451insCGC	XP_006719890.1:n.-187+450_-187+451insCGC
XM_005266403.3:c.-256_-255insCGC	XP_005266460.1:n.-256_-255insCGC
XM_005266404.3:c.-256_-255insCGC	XP_005266461.1:n.-256_-255insCGC
XM_006719827.3:c.-187+450_-187+451insCGC	XP_006719890.1:n.-187+450_-187+451insCGC
NM_001127217.3:c.-256_-255insCGC MANE Select	NP_001120689.1:n.-256_-255insCGC
NM_005905.6:c.-256_-255insCGC	NP_005896.1:n.-256_-255insCGC