Canonical Allele Identifier: CA2580612804

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2038647
• ClinVar RCV Id: RCV002895112

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066236_67066238del , CM000677.2:g.67066236_67066238del	GRCh38
NC_000015.9:g.67358574_67358576del , CM000677.1:g.67358574_67358576del	GRCh37
NC_000015.8:g.65145628_65145630del	NCBI36
NG_011990.1:g.5380_5382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2292_-110+2294del	ENSP00000453082.2:n.-110+2292_-110+2294del
ENST00000560424.2:c.82_84del	ENSP00000455540.2:p.Glu28del
ENST00000327367.9:c.82_84del MANE Select	ENSP00000332973.4:p.Glu28del
ENST00000327367.8:c.82_84del	ENSP00000332973.4:p.Glu28del
ENST00000559460.5:c.-110+2292_-110+2294del	ENSP00000453082.1:n.-110+2292_-110+2294del
NM_005902.3:c.82_84del	NP_005893.1:p.Glu28del
XM_011521559.1:c.82_84del	XP_011519861.1:p.Glu28del
XM_011521559.3:c.82_84del	XP_011519861.1:p.Glu28del
NM_005902.4:c.82_84del MANE Select	NP_005893.1:p.Glu28del