Canonical Allele Identifier: CA10643257

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311815
• ClinVar RCV Id: RCV000326523
• dbSNP Id: rs886050148
• gnomAD v3: 13-36845085-AT-A
• gnomAD v4: 13-36845085-AT-A
• MyVariant Identifiers: chr13:g.37419223del (hg19) ; chr13:g.36845086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36845088del , CM000675.2:g.36845088del	GRCh38
NC_000013.10:g.37419225del , CM000675.1:g.37419225del	GRCh37
NC_000013.9:g.36317225del	NCBI36
NG_016963.1:g.80187del , LRG_703:g.80187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379826.5:c.*3590del MANE Select	ENSP00000369154.4:n.*3590del
ENST00000350148.9:c.*3590del	ENSP00000239885.6:n.*3590del
ENST00000379826.4:c.*3590del	ENSP00000369154.4:n.*3590del
ENST00000399275.6:c.*3590del	ENSP00000382216.2:n.*3590del
NM_001127217.2:c.*3590del , LRG_703t1:c.*3590del	NP_001120689.1:n.*3590del
NM_005905.5:c.*3590del	NP_005896.1:n.*3590del
XM_011535096.1:c.1260+8333del	XP_011533398.1:n.1260+8333del
NM_001127217.3:c.*3590del MANE Select	NP_001120689.1:n.*3590del
NM_005905.6:c.*3590del	NP_005896.1:n.*3590del
NM_001378621.1:c.*3590del	NP_001365550.1:n.*3590del