Canonical Allele Identifier: CA2804563145
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066479del , CM000677.2:g.67066479del GRCh38
NC_000015.9:g.67358817del , CM000677.1:g.67358817del GRCh37
NC_000015.8:g.65145871del NCBI36
NG_011990.1:g.5623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2535del ENSP00000453082.2:n.-110+2535del
ENST00000560424.2:c.206+119del ENSP00000455540.2:n.206+119del
ENST00000327367.9:c.206+119del MANE Select ENSP00000332973.4:n.206+119del
ENST00000327367.8:c.206+119del ENSP00000332973.4:n.206+119del
ENST00000559460.5:c.-110+2535del ENSP00000453082.1:n.-110+2535del
NM_005902.3:c.206+119del NP_005893.1:n.206+119del
XM_011521559.1:c.206+119del XP_011519861.1:n.206+119del
XM_011521559.3:c.206+119del XP_011519861.1:n.206+119del
NM_005902.4:c.206+119del MANE Select NP_005893.1:n.206+119del