Canonical Allele Identifier: CA2184369278

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066315_67066330delinsCCATCACCACGCAGAA , CM000677.2:g.67066315_67066330delinsCCATCACCACGCAGAA	GRCh38
NC_000015.9:g.67358653_67358668delinsCCATCACCACGCAGAA , CM000677.1:g.67358653_67358668delinsCCATCACCACGCAGAA	GRCh37
NC_000015.8:g.65145707_65145722delinsCCATCACCACGCAGAA	NCBI36
NG_011990.1:g.5459_5474delinsCCATCACCACGCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2371_-110+2386delinsCCATCACCACGCAGAA	ENSP00000453082.2:n.-110+2371_-110+2386delinsCCATCACCACGCAGAA...
ENST00000560424.2:c.161_176delinsCCATCACCACGCAGAA	ENSP00000455540.2:p.Ala54=
ENST00000327367.9:c.161_176delinsCCATCACCACGCAGAA MANE Select	ENSP00000332973.4:p.Ala54=
ENST00000327367.8:c.161_176delinsCCATCACCACGCAGAA	ENSP00000332973.4:p.Ala54=
ENST00000559460.5:c.-110+2371_-110+2386delinsCCATCACCACGCAGAA	ENSP00000453082.1:n.-110+2371_-110+2386delinsCCATCACCACGCAGAA...
NM_005902.3:c.161_176delinsCCATCACCACGCAGAA	NP_005893.1:p.Ala54=
XM_011521559.1:c.161_176delinsCCATCACCACGCAGAA	XP_011519861.1:p.Ala54=
XM_011521559.3:c.161_176delinsCCATCACCACGCAGAA	XP_011519861.1:p.Ala54=
NM_005902.4:c.161_176delinsCCATCACCACGCAGAA MANE Select	NP_005893.1:p.Ala54=