Canonical Allele Identifier: CA2519971889

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065934_67065938del , CM000677.2:g.67065934_67065938del	GRCh38
NC_000015.9:g.67358272_67358276del , CM000677.1:g.67358272_67358276del	GRCh37
NC_000015.8:g.65145326_65145330del	NCBI36
NG_011990.1:g.5078_5082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1990_-110+1994del	ENSP00000453082.2:n.-110+1990_-110+1994del
ENST00000560424.2:c.-221_-217del	ENSP00000455540.2:n.-221_-217del
ENST00000327367.9:c.-221_-217del MANE Select	ENSP00000332973.4:n.-221_-217del
ENST00000327367.8:c.-221_-217del	ENSP00000332973.4:n.-221_-217del
ENST00000559460.5:c.-110+1990_-110+1994del	ENSP00000453082.1:n.-110+1990_-110+1994del
NM_005902.3:c.-221_-217del	NP_005893.1:n.-221_-217del
XM_011521559.1:c.-221_-217del	XP_011519861.1:n.-221_-217del
NM_005902.4:c.-221_-217del MANE Select	NP_005893.1:n.-221_-217del