Canonical Allele Identifier: CA322453

Gene: SMAD3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165075_67165076del , CM000677.2:g.67165075_67165076del	GRCh38
NC_000015.9:g.67457413_67457414del , CM000677.1:g.67457413_67457414del	GRCh37
NC_000015.8:g.65244467_65244468del	NCBI36
NG_011990.1:g.104219_104220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.72_73del	ENSP00000453684.2:p.Arg24SerfsTer?
ENST00000559460.6:c.72_73del	ENSP00000453082.2:p.Arg24SerfsTer?
ENST00000560424.2:c.387_388del	ENSP00000455540.2:p.Arg129SerfsTer?
ENST00000327367.9:c.387_388del MANE Select	ENSP00000332973.4:p.Arg129SerfsTer?
ENST00000679624.1:c.72_73del	ENSP00000505445.1:p.Arg24SerfsTer?
ENST00000681239.1:c.72_73del	ENSP00000505641.1:p.Arg24SerfsTer?
ENST00000327367.8:c.387_388del	ENSP00000332973.4:p.Arg129SerfsTer?
ENST00000439724.7:c.255_256del	ENSP00000401133.3:p.Arg85SerfsTer?
ENST00000540846.6:c.72_73del	ENSP00000437757.2:p.Arg24SerfsTer?
ENST00000558739.1:c.72_73del	ENSP00000453684.1:p.Arg24SerfsTer?
ENST00000558894.5:c.72_73del	ENSP00000458060.1:p.Arg24SerfsTer?
ENST00000559460.5:c.72_73del	ENSP00000453082.1:p.Arg24SerfsTer?
ENST00000559937.1:n.237_238del
ENST00000560175.5:c.72_73del	ENSP00000455095.1:p.Arg24SerfsTer?
NM_001145102.1:c.72_73del	NP_001138574.1:p.Arg24SerfsTer?
NM_001145103.1:c.255_256del	NP_001138575.1:p.Arg85SerfsTer?
NM_005902.3:c.387_388del	NP_005893.1:p.Arg129SerfsTer?
XM_011521559.1:c.387_388del	XP_011519861.1:p.Arg129SerfsTer14
XM_011521560.1:c.240_241del	XP_011519862.1:p.Arg80SerfsTer?
XM_011521559.3:c.387_388del	XP_011519861.1:p.Arg129SerfsTer14
NM_005902.4:c.387_388del MANE Select	NP_005893.1:p.Arg129SerfsTer?
NM_001145102.2:c.72_73del	NP_001138574.1:p.Arg24SerfsTer?
NM_001145103.2:c.255_256del	NP_001138575.1:p.Arg85SerfsTer?