Canonical Allele Identifier: CA2184368967

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066174_67066175delinsTC , CM000677.2:g.67066174_67066175delinsTC	GRCh38
NC_000015.9:g.67358512_67358513delinsTC , CM000677.1:g.67358512_67358513delinsTC	GRCh37
NC_000015.8:g.65145566_65145567delinsTC	NCBI36
NG_011990.1:g.5318_5319delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2230_-110+2231delinsTC	ENSP00000453082.2:n.-110+2230_-110+2231delinsTC
ENST00000560424.2:c.20_21delinsTC	ENSP00000455540.2:p.Phe7=
ENST00000327367.9:c.20_21delinsTC MANE Select	ENSP00000332973.4:p.Phe7=
ENST00000327367.8:c.20_21delinsTC	ENSP00000332973.4:p.Phe7=
ENST00000559460.5:c.-110+2230_-110+2231delinsTC	ENSP00000453082.1:n.-110+2230_-110+2231delinsTC
NM_005902.3:c.20_21delinsTC	NP_005893.1:p.Phe7=
XM_011521559.1:c.20_21delinsTC	XP_011519861.1:p.Phe7=
XM_011521559.3:c.20_21delinsTC	XP_011519861.1:p.Phe7=
NM_005902.4:c.20_21delinsTC MANE Select	NP_005893.1:p.Phe7=