Canonical Allele Identifier: CA10643258

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311816
• ClinVar RCV Id: RCV000383413
• dbSNP Id: rs201352307
• gnomAD v2: 13-37419237-ATG-A
• gnomAD v3: 13-36845100-ATG-A
• gnomAD v4: 13-36845100-ATG-A
• MyVariant Identifiers: chr13:g.37419240_37419241del (hg19) ; chr13:g.37419238_37419239del (hg19) ; chr13:g.36845103_36845104del (hg38) ; chr13:g.36845101_36845102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36845114_36845115del , CM000675.2:g.36845114_36845115del	GRCh38
NC_000013.10:g.37419251_37419252del , CM000675.1:g.37419251_37419252del	GRCh37
NC_000013.9:g.36317251_36317252del	NCBI36
NG_016963.1:g.80171_80172del , LRG_703:g.80171_80172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379826.5:c.*3574_*3575del MANE Select	ENSP00000369154.4:n.*3574_*3575del
ENST00000350148.9:c.*3574_*3575del	ENSP00000239885.6:n.*3574_*3575del
ENST00000379826.4:c.*3574_*3575del	ENSP00000369154.4:n.*3574_*3575del
ENST00000399275.6:c.*3574_*3575del	ENSP00000382216.2:n.*3574_*3575del
NM_001127217.2:c.*3574_*3575del , LRG_703t1:c.*3574_*3575del	NP_001120689.1:n.*3574_*3575del
NM_005905.5:c.*3574_*3575del	NP_005896.1:n.*3574_*3575del
XM_011535096.1:c.1260+8317_1260+8318del	XP_011533398.1:n.1260+8317_1260+8318del
NM_001127217.3:c.*3574_*3575del MANE Select	NP_001120689.1:n.*3574_*3575del
NM_005905.6:c.*3574_*3575del	NP_005896.1:n.*3574_*3575del
NM_001378621.1:c.*3574_*3575del	NP_001365550.1:n.*3574_*3575del