Canonical Allele Identifier: CA2556698730

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065898_67065922dup , CM000677.2:g.67065898_67065922dup	GRCh38
NC_000015.9:g.67358236_67358260dup , CM000677.1:g.67358236_67358260dup	GRCh37
NC_000015.8:g.65145290_65145314dup	NCBI36
NG_011990.1:g.5042_5066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1954_-110+1978dup	ENSP00000453082.2:n.-110+1954_-110+1978dup
ENST00000560424.2:c.-257_-233dup	ENSP00000455540.2:n.-257_-233dup
ENST00000327367.9:c.-257_-233dup MANE Select	ENSP00000332973.4:n.-257_-233dup
ENST00000327367.8:c.-257_-233dup	ENSP00000332973.4:n.-257_-233dup
ENST00000559460.5:c.-110+1954_-110+1978dup	ENSP00000453082.1:n.-110+1954_-110+1978dup
NM_005902.3:c.-257_-233dup	NP_005893.1:n.-257_-233dup
XM_011521559.1:c.-257_-233dup	XP_011519861.1:n.-257_-233dup
NM_005902.4:c.-257_-233dup MANE Select	NP_005893.1:n.-257_-233dup