Canonical Allele Identifier: CA2580089883

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184725_67184736del , CM000677.2:g.67184725_67184736del	GRCh38
NC_000015.9:g.67477063_67477074del , CM000677.1:g.67477063_67477074del	GRCh37
NC_000015.8:g.65264117_65264128del	NCBI36
NG_011990.1:g.123869_123880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.287-2_296del
ENST00000558739.2:c.557-2_566del
ENST00000558827.2:c.287-2_296del
ENST00000559460.6:c.557-2_566del
ENST00000560424.2:c.872-2_881del
ENST00000327367.9:c.872-2_881del
ENST00000679624.1:c.557-2_566del
ENST00000680689.1:n.575-2_584del
ENST00000681239.1:c.557-2_566del
ENST00000327367.8:c.872-2_881del
ENST00000439724.7:c.740-2_749del
ENST00000537194.6:c.287-2_296del
ENST00000540846.6:c.557-2_566del
ENST00000558827.1:c.287-2_296del
ENST00000558894.5:c.557-2640_557-2629del	ENSP00000458060.1:n.557-2640_557-2629del
ENST00000560402.1:n.283-8148_283-8137del
NM_001145102.1:c.557-2_566del
NM_001145103.1:c.740-2_749del
NM_001145104.1:c.287-2_296del
NM_005902.3:c.872-2_881del
XM_011521559.1:c.740-2_749del
XM_011521560.1:c.725-2_734del
XM_011521559.3:c.740-2_749del
NM_005902.4:c.872-2_881del
NM_001145102.2:c.557-2_566del
NM_001145103.2:c.740-2_749del
NM_001145104.2:c.287-2_296del