Canonical Allele Identifier: CA2184369556
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066475_67066477delinsCTG , CM000677.2:g.67066475_67066477delinsCTG GRCh38
NC_000015.9:g.67358813_67358815delinsCTG , CM000677.1:g.67358813_67358815delinsCTG GRCh37
NC_000015.8:g.65145867_65145869delinsCTG NCBI36
NG_011990.1:g.5619_5621delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2531_-110+2533delinsCTG ENSP00000453082.2:n.-110+2531_-110+2533delinsCTG
ENST00000560424.2:c.206+115_206+117delinsCTG ENSP00000455540.2:n.206+115_206+117delinsCTG
ENST00000327367.9:c.206+115_206+117delinsCTG MANE Select ENSP00000332973.4:n.206+115_206+117delinsCTG
ENST00000327367.8:c.206+115_206+117delinsCTG ENSP00000332973.4:n.206+115_206+117delinsCTG
ENST00000559460.5:c.-110+2531_-110+2533delinsCTG ENSP00000453082.1:n.-110+2531_-110+2533delinsCTG
NM_005902.3:c.206+115_206+117delinsCTG NP_005893.1:n.206+115_206+117delinsCTG
XM_011521559.1:c.206+115_206+117delinsCTG XP_011519861.1:n.206+115_206+117delinsCTG
XM_011521559.3:c.206+115_206+117delinsCTG XP_011519861.1:n.206+115_206+117delinsCTG
NM_005902.4:c.206+115_206+117delinsCTG MANE Select NP_005893.1:n.206+115_206+117delinsCTG