Canonical Allele Identifier: CA2184368431

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065863_67065864delinsGC , CM000677.2:g.67065863_67065864delinsGC	GRCh38
NC_000015.9:g.67358201_67358202delinsGC , CM000677.1:g.67358201_67358202delinsGC	GRCh37
NC_000015.8:g.65145255_65145256delinsGC	NCBI36
NG_011990.1:g.5007_5008delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1919_-110+1920delinsGC	ENSP00000453082.2:n.-110+1919_-110+1920delinsGC
ENST00000560424.2:c.-292_-291delinsGC	ENSP00000455540.2:n.-292_-291delinsGC
ENST00000327367.9:c.-292_-291delinsGC MANE Select	ENSP00000332973.4:n.-292_-291delinsGC
ENST00000327367.8:c.-292_-291delinsGC	ENSP00000332973.4:n.-292_-291delinsGC
ENST00000559460.5:c.-110+1919_-110+1920delinsGC	ENSP00000453082.1:n.-110+1919_-110+1920delinsGC
NM_005902.3:c.-292_-291delinsGC	NP_005893.1:n.-292_-291delinsGC
XM_011521559.1:c.-292_-291delinsGC	XP_011519861.1:n.-292_-291delinsGC
NM_005902.4:c.-292_-291delinsGC MANE Select	NP_005893.1:n.-292_-291delinsGC