Canonical Allele Identifier: CA915946052

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 636409
• ClinVar RCV Id: RCV000788226
• dbSNP Id: rs1595941909

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165086del , CM000677.2:g.67165086del	GRCh38
NC_000015.9:g.67457424del , CM000677.1:g.67457424del	GRCh37
NC_000015.8:g.65244478del	NCBI36
NG_011990.1:g.104230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.83del	ENSP00000453684.2:p.Pro28GlnfsTer?
ENST00000559460.6:c.83del	ENSP00000453082.2:p.Pro28GlnfsTer?
ENST00000560424.2:c.398del	ENSP00000455540.2:p.Pro133GlnfsTer?
ENST00000327367.9:c.398del MANE Select	ENSP00000332973.4:p.Pro133GlnfsTer?
ENST00000679624.1:c.83del	ENSP00000505445.1:p.Pro28GlnfsTer?
ENST00000681239.1:c.83del	ENSP00000505641.1:p.Pro28GlnfsTer?
ENST00000327367.8:c.398del	ENSP00000332973.4:p.Pro133GlnfsTer?
ENST00000439724.7:c.266del	ENSP00000401133.3:p.Pro89GlnfsTer?
ENST00000540846.6:c.83del	ENSP00000437757.2:p.Pro28GlnfsTer?
ENST00000558739.1:c.83del	ENSP00000453684.1:p.Pro28GlnfsTer?
ENST00000558894.5:c.83del	ENSP00000458060.1:p.Pro28GlnfsTer?
ENST00000559460.5:c.83del	ENSP00000453082.1:p.Pro28GlnfsTer?
ENST00000559937.1:n.248del
ENST00000560175.5:c.83del	ENSP00000455095.1:p.Pro28GlnfsTer?
NM_001145102.1:c.83del	NP_001138574.1:p.Pro28GlnfsTer?
NM_001145103.1:c.266del	NP_001138575.1:p.Pro89GlnfsTer?
NM_005902.3:c.398del	NP_005893.1:p.Pro133GlnfsTer?
XM_011521559.1:c.398del	XP_011519861.1:p.Pro133GlnfsTer9
XM_011521560.1:c.251del	XP_011519862.1:p.Pro84GlnfsTer?
XM_011521559.3:c.398del	XP_011519861.1:p.Pro133GlnfsTer9
NM_005902.4:c.398del MANE Select	NP_005893.1:p.Pro133GlnfsTer?
NM_001145102.2:c.83del	NP_001138574.1:p.Pro28GlnfsTer?
NM_001145103.2:c.266del	NP_001138575.1:p.Pro89GlnfsTer?