Canonical Allele Identifier: CA10639437

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 311914
• ClinVar RCV Id: RCV000380836
• dbSNP Id: rs886050175
• MyVariant Identifiers: chr13:g.37494321_37494330delinsTGCA (hg19) ; chr13:g.36920184_36920193delinsTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36920184_36920193delinsTGCA , CM000675.2:g.36920184_36920193delinsTGCA	GRCh38
NC_000013.10:g.37494321_37494330delinsTGCA , CM000675.1:g.37494321_37494330delinsTGCA	GRCh37
NC_000013.9:g.36392321_36392330delinsTGCA	NCBI36
NG_016963.1:g.5080_5089delinsTGCA , LRG_703:g.5080_5089delinsTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.253+442_253+451delinsTGCA
ENST00000350148.10:c.-264_-255delinsTGCA	ENSP00000239885.6:n.-264_-255delinsTGCA
ENST00000379826.5:c.-264_-255delinsTGCA MANE Select	ENSP00000369154.4:n.-264_-255delinsTGCA
ENST00000350148.9:c.-264_-255delinsTGCA	ENSP00000239885.6:n.-264_-255delinsTGCA
ENST00000379826.4:c.-264_-255delinsTGCA	ENSP00000369154.4:n.-264_-255delinsTGCA
ENST00000483941.1:n.131+442_131+451delinsTGCA
NM_001127217.2:c.-264_-255delinsTGCA , LRG_703t1:c.-264_-255delinsTGCA	NP_001120689.1:n.-264_-255delinsTGCA
NM_005905.5:c.-264_-255delinsTGCA	NP_005896.1:n.-264_-255delinsTGCA
XM_005266403.2:c.-264_-255delinsTGCA	XP_005266460.1:n.-264_-255delinsTGCA
XM_005266404.2:c.-264_-255delinsTGCA	XP_005266461.1:n.-264_-255delinsTGCA
XM_006719827.2:c.-187+442_-187+451delinsTGCA	XP_006719890.1:n.-187+442_-187+451delinsTGCA
XM_005266403.3:c.-264_-255delinsTGCA	XP_005266460.1:n.-264_-255delinsTGCA
XM_005266404.3:c.-264_-255delinsTGCA	XP_005266461.1:n.-264_-255delinsTGCA
XM_006719827.3:c.-187+442_-187+451delinsTGCA	XP_006719890.1:n.-187+442_-187+451delinsTGCA
NM_001127217.3:c.-264_-255delinsTGCA MANE Select	NP_001120689.1:n.-264_-255delinsTGCA
NM_005905.6:c.-264_-255delinsTGCA	NP_005896.1:n.-264_-255delinsTGCA