Canonical Allele Identifier: CA2184369493
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066403_67066404delinsGC , CM000677.2:g.67066403_67066404delinsGC GRCh38
NC_000015.9:g.67358741_67358742delinsGC , CM000677.1:g.67358741_67358742delinsGC GRCh37
NC_000015.8:g.65145795_65145796delinsGC NCBI36
NG_011990.1:g.5547_5548delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2459_-110+2460delinsGC ENSP00000453082.2:n.-110+2459_-110+2460delinsGC
ENST00000560424.2:c.206+43_206+44delinsGC ENSP00000455540.2:n.206+43_206+44delinsGC
ENST00000327367.9:c.206+43_206+44delinsGC MANE Select ENSP00000332973.4:n.206+43_206+44delinsGC
ENST00000327367.8:c.206+43_206+44delinsGC ENSP00000332973.4:n.206+43_206+44delinsGC
ENST00000559460.5:c.-110+2459_-110+2460delinsGC ENSP00000453082.1:n.-110+2459_-110+2460delinsGC
NM_005902.3:c.206+43_206+44delinsGC NP_005893.1:n.206+43_206+44delinsGC
XM_011521559.1:c.206+43_206+44delinsGC XP_011519861.1:n.206+43_206+44delinsGC
XM_011521559.3:c.206+43_206+44delinsGC XP_011519861.1:n.206+43_206+44delinsGC
NM_005902.4:c.206+43_206+44delinsGC MANE Select NP_005893.1:n.206+43_206+44delinsGC