Canonical Allele Identifier: CA020072

Gene: SMAD3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165001del , CM000677.2:g.67165001del	GRCh38
NC_000015.9:g.67457339del , CM000677.1:g.67457339del	GRCh37
NC_000015.8:g.65244393del	NCBI36
NG_011990.1:g.104145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-3del	ENSP00000453684.2:n.-3del
ENST00000559460.6:c.-3del	ENSP00000453082.2:n.-3del
ENST00000560424.2:c.313del	ENSP00000455540.2:p.Ala105ProfsTer11
ENST00000327367.9:c.313del MANE Select	ENSP00000332973.4:p.Ala105ProfsTer11
ENST00000679624.1:c.-3del	ENSP00000505445.1:n.-3del
ENST00000681239.1:c.-3del	ENSP00000505641.1:n.-3del
ENST00000327367.8:c.313del	ENSP00000332973.4:p.Ala105ProfsTer11
ENST00000439724.7:c.181del	ENSP00000401133.3:p.Ala61ProfsTer11
ENST00000540846.6:c.-3del	ENSP00000437757.2:n.-3del
ENST00000558739.1:c.-3del	ENSP00000453684.1:n.-3del
ENST00000558894.5:c.-3del	ENSP00000458060.1:n.-3del
ENST00000559092.1:c.258del	ENSP00000453788.1:p.Pro87HisfsTer5
ENST00000559460.5:c.-3del	ENSP00000453082.1:n.-3del
ENST00000559937.1:n.163del
ENST00000560175.5:c.-3del	ENSP00000455095.1:n.-3del
NM_001145102.1:c.-3del	NP_001138574.1:n.-3del
NM_001145103.1:c.181del	NP_001138575.1:p.Ala61ProfsTer11
NM_005902.3:c.313del	NP_005893.1:p.Ala105ProfsTer11
XM_011521559.1:c.313del	XP_011519861.1:p.Ala105ProfsTer11
XM_011521560.1:c.166del	XP_011519862.1:p.Ala56ProfsTer11
XM_011521559.3:c.313del	XP_011519861.1:p.Ala105ProfsTer11
NM_005902.4:c.313del MANE Select	NP_005893.1:p.Ala105ProfsTer11
NM_001145102.2:c.-3del	NP_001138574.1:n.-3del
NM_001145103.2:c.181del	NP_001138575.1:p.Ala61ProfsTer11