Canonical Allele Identifier: CA2184369503

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066408_67066409delinsCT , CM000677.2:g.67066408_67066409delinsCT	GRCh38
NC_000015.9:g.67358746_67358747delinsCT , CM000677.1:g.67358746_67358747delinsCT	GRCh37
NC_000015.8:g.65145800_65145801delinsCT	NCBI36
NG_011990.1:g.5552_5553delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2464_-110+2465delinsCT	ENSP00000453082.2:n.-110+2464_-110+2465delinsCT
ENST00000560424.2:c.206+48_206+49delinsCT	ENSP00000455540.2:n.206+48_206+49delinsCT
ENST00000327367.9:c.206+48_206+49delinsCT MANE Select	ENSP00000332973.4:n.206+48_206+49delinsCT
ENST00000327367.8:c.206+48_206+49delinsCT	ENSP00000332973.4:n.206+48_206+49delinsCT
ENST00000559460.5:c.-110+2464_-110+2465delinsCT	ENSP00000453082.1:n.-110+2464_-110+2465delinsCT
NM_005902.3:c.206+48_206+49delinsCT	NP_005893.1:n.206+48_206+49delinsCT
XM_011521559.1:c.206+48_206+49delinsCT	XP_011519861.1:n.206+48_206+49delinsCT
XM_011521559.3:c.206+48_206+49delinsCT	XP_011519861.1:n.206+48_206+49delinsCT
NM_005902.4:c.206+48_206+49delinsCT MANE Select	NP_005893.1:n.206+48_206+49delinsCT