Canonical Allele Identifier: CA2531600978
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065895_67065896insT , CM000677.2:g.67065895_67065896insT GRCh38
NC_000015.9:g.67358233_67358234insT , CM000677.1:g.67358233_67358234insT GRCh37
NC_000015.8:g.65145287_65145288insT NCBI36
NG_011990.1:g.5039_5040insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1951_-110+1952insT ENSP00000453082.2:n.-110+1951_-110+1952insT
ENST00000560424.2:c.-260_-259insT ENSP00000455540.2:n.-260_-259insT
ENST00000327367.9:c.-260_-259insT MANE Select ENSP00000332973.4:n.-260_-259insT
ENST00000327367.8:c.-260_-259insT ENSP00000332973.4:n.-260_-259insT
ENST00000559460.5:c.-110+1951_-110+1952insT ENSP00000453082.1:n.-110+1951_-110+1952insT
NM_005902.3:c.-260_-259insT NP_005893.1:n.-260_-259insT
XM_011521559.1:c.-260_-259insT XP_011519861.1:n.-260_-259insT
NM_005902.4:c.-260_-259insT MANE Select NP_005893.1:n.-260_-259insT