Canonical Allele Identifier: CA2575767618
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066091del , CM000677.2:g.67066091del GRCh38
NC_000015.9:g.67358429del , CM000677.1:g.67358429del GRCh37
NC_000015.8:g.65145483del NCBI36
NG_011990.1:g.5235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2147del ENSP00000453082.2:n.-110+2147del
ENST00000560424.2:c.-64del ENSP00000455540.2:n.-64del
ENST00000327367.9:c.-64del MANE Select ENSP00000332973.4:n.-64del
ENST00000327367.8:c.-64del ENSP00000332973.4:n.-64del
ENST00000559460.5:c.-110+2147del ENSP00000453082.1:n.-110+2147del
NM_005902.3:c.-64del NP_005893.1:n.-64del
XM_011521559.1:c.-64del XP_011519861.1:n.-64del
NM_005902.4:c.-64del MANE Select NP_005893.1:n.-64del