Canonical Allele Identifier: CA2184369537

Gene: SMAD3

Linked Data

• dbSNP Id: rs1959920514

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066452_67066455del , CM000677.2:g.67066452_67066455del	GRCh38
NC_000015.9:g.67358790_67358793del , CM000677.1:g.67358790_67358793del	GRCh37
NC_000015.8:g.65145844_65145847del	NCBI36
NG_011990.1:g.5596_5599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2508_-110+2511del	ENSP00000453082.2:n.-110+2508_-110+2511del
ENST00000560424.2:c.206+92_206+95del	ENSP00000455540.2:n.206+92_206+95del
ENST00000327367.9:c.206+92_206+95del MANE Select	ENSP00000332973.4:n.206+92_206+95del
ENST00000327367.8:c.206+92_206+95del	ENSP00000332973.4:n.206+92_206+95del
ENST00000559460.5:c.-110+2508_-110+2511del	ENSP00000453082.1:n.-110+2508_-110+2511del
NM_005902.3:c.206+92_206+95del	NP_005893.1:n.206+92_206+95del
XM_011521559.1:c.206+92_206+95del	XP_011519861.1:n.206+92_206+95del
XM_011521559.3:c.206+92_206+95del	XP_011519861.1:n.206+92_206+95del
NM_005902.4:c.206+92_206+95del MANE Select	NP_005893.1:n.206+92_206+95del