Canonical Allele Identifier: CA2629120253

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67184689-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184691_67184692dup , CM000677.2:g.67184691_67184692dup	GRCh38
NC_000015.9:g.67477029_67477030dup , CM000677.1:g.67477029_67477030dup	GRCh37
NC_000015.8:g.65264083_65264084dup	NCBI36
NG_011990.1:g.123835_123836dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.287-36_287-35dup	ENSP00000454165.2:n.287-36_287-35dup
ENST00000558739.2:c.557-36_557-35dup	ENSP00000453684.2:n.557-36_557-35dup
ENST00000558827.2:c.287-36_287-35dup	ENSP00000452767.2:n.287-36_287-35dup
ENST00000559460.6:c.557-36_557-35dup	ENSP00000453082.2:n.557-36_557-35dup
ENST00000560424.2:c.872-36_872-35dup	ENSP00000455540.2:n.872-36_872-35dup
ENST00000327367.9:c.872-36_872-35dup MANE Select	ENSP00000332973.4:n.872-36_872-35dup
ENST00000679624.1:c.557-36_557-35dup	ENSP00000505445.1:n.557-36_557-35dup
ENST00000680689.1:n.575-36_575-35dup
ENST00000681239.1:c.557-36_557-35dup	ENSP00000505641.1:n.557-36_557-35dup
ENST00000327367.8:c.872-36_872-35dup	ENSP00000332973.4:n.872-36_872-35dup
ENST00000439724.7:c.740-36_740-35dup	ENSP00000401133.3:n.740-36_740-35dup
ENST00000537194.6:c.287-36_287-35dup	ENSP00000445348.2:n.287-36_287-35dup
ENST00000540846.6:c.557-36_557-35dup	ENSP00000437757.2:n.557-36_557-35dup
ENST00000558827.1:c.287-36_287-35dup	ENSP00000452767.1:n.287-36_287-35dup
ENST00000558894.5:c.557-2674_557-2673dup	ENSP00000458060.1:n.557-2674_557-2673dup
ENST00000560402.1:n.283-8182_283-8181dup
NM_001145102.1:c.557-36_557-35dup	NP_001138574.1:n.557-36_557-35dup
NM_001145103.1:c.740-36_740-35dup	NP_001138575.1:n.740-36_740-35dup
NM_001145104.1:c.287-36_287-35dup	NP_001138576.1:n.287-36_287-35dup
NM_005902.3:c.872-36_872-35dup	NP_005893.1:n.872-36_872-35dup
XM_011521559.1:c.740-36_740-35dup	XP_011519861.1:n.740-36_740-35dup
XM_011521560.1:c.725-36_725-35dup	XP_011519862.1:n.725-36_725-35dup
XM_011521559.3:c.740-36_740-35dup	XP_011519861.1:n.740-36_740-35dup
NM_005902.4:c.872-36_872-35dup MANE Select	NP_005893.1:n.872-36_872-35dup
NM_001145102.2:c.557-36_557-35dup	NP_001138574.1:n.557-36_557-35dup
NM_001145103.2:c.740-36_740-35dup	NP_001138575.1:n.740-36_740-35dup
NM_001145104.2:c.287-36_287-35dup	NP_001138576.1:n.287-36_287-35dup