Canonical Allele Identifier: CA915946030

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 645262
• ClinVar RCV Id: RCV000799310
• dbSNP Id: rs1595882160

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066317_67066331del , CM000677.2:g.67066317_67066331del	GRCh38
NC_000015.9:g.67358655_67358669del , CM000677.1:g.67358655_67358669del	GRCh37
NC_000015.8:g.65145709_65145723del	NCBI36
NG_011990.1:g.5461_5475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2373_-110+2387del	ENSP00000453082.2:n.-110+2373_-110+2387del
ENST00000560424.2:c.163_177del	ENSP00000455540.2:p.Ile55_Asn59del
ENST00000327367.9:c.163_177del MANE Select	ENSP00000332973.4:p.Ile55_Asn59del
ENST00000327367.8:c.163_177del	ENSP00000332973.4:p.Ile55_Asn59del
ENST00000559460.5:c.-110+2373_-110+2387del	ENSP00000453082.1:n.-110+2373_-110+2387del
NM_005902.3:c.163_177del	NP_005893.1:p.Ile55_Asn59del
XM_011521559.1:c.163_177del	XP_011519861.1:p.Ile55_Asn59del
XM_011521559.3:c.163_177del	XP_011519861.1:p.Ile55_Asn59del
NM_005902.4:c.163_177del MANE Select	NP_005893.1:p.Ile55_Asn59del