Canonical Allele Identifier: CA913191080

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 626886
• ClinVar RCV Id: RCV000770682
• dbSNP Id: rs1566999378

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181302_67181325del , CM000677.2:g.67181302_67181325del	GRCh38
NC_000015.9:g.67473640_67473663del , CM000677.1:g.67473640_67473663del	GRCh37
NC_000015.8:g.65260694_65260717del	NCBI36
NG_011990.1:g.120446_120469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.135_158del	ENSP00000454165.2:p.Asn46_Phe53del
ENST00000558739.2:c.405_428del	ENSP00000453684.2:p.Asn136_Phe143del
ENST00000558827.2:c.135_158del	ENSP00000452767.2:p.Asn46_Phe53del
ENST00000559460.6:c.405_428del	ENSP00000453082.2:p.Asn136_Phe143del
ENST00000560424.2:c.720_743del	ENSP00000455540.2:p.Asn241_Phe248del
ENST00000327367.9:c.720_743del MANE Select	ENSP00000332973.4:p.Asn241_Phe248del
ENST00000679624.1:c.405_428del	ENSP00000505445.1:p.Asn136_Phe143del
ENST00000680689.1:n.423_446del
ENST00000681239.1:c.405_428del	ENSP00000505641.1:p.Asn136_Phe143del
ENST00000327367.8:c.720_743del	ENSP00000332973.4:p.Asn241_Phe248del
ENST00000439724.7:c.588_611del	ENSP00000401133.3:p.Asn197_Phe204del
ENST00000537194.6:c.135_158del	ENSP00000445348.2:p.Asn46_Phe53del
ENST00000540846.6:c.405_428del	ENSP00000437757.2:p.Asn136_Phe143del
ENST00000558428.5:c.135_158del	ENSP00000454165.1:p.Asn46_Phe53del
ENST00000558827.1:c.135_158del	ENSP00000452767.1:p.Asn46_Phe53del
ENST00000558894.5:c.405_428del	ENSP00000458060.1:p.Asn136_Phe143del
ENST00000560402.1:n.282+6718_282+6741del
NM_001145102.1:c.405_428del	NP_001138574.1:p.Asn136_Phe143del
NM_001145103.1:c.588_611del	NP_001138575.1:p.Asn197_Phe204del
NM_001145104.1:c.135_158del	NP_001138576.1:p.Asn46_Phe53del
NM_005902.3:c.720_743del	NP_005893.1:p.Asn241_Phe248del
XM_011521559.1:c.588_611del	XP_011519861.1:p.Asn197_Phe204del
XM_011521560.1:c.573_596del	XP_011519862.1:p.Asn192_Phe199del
XM_011521559.3:c.588_611del	XP_011519861.1:p.Asn197_Phe204del
NM_005902.4:c.720_743del MANE Select	NP_005893.1:p.Asn241_Phe248del
NM_001145102.2:c.405_428del	NP_001138574.1:p.Asn136_Phe143del
NM_001145103.2:c.588_611del	NP_001138575.1:p.Asn197_Phe204del
NM_001145104.2:c.135_158del	NP_001138576.1:p.Asn46_Phe53del