Canonical Allele Identifier: CA2184369146

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066255_67066267delinsCGGTCAAGAGCCT , CM000677.2:g.67066255_67066267delinsCGGTCAAGAGCCT	GRCh38
NC_000015.9:g.67358593_67358605delinsCGGTCAAGAGCCT , CM000677.1:g.67358593_67358605delinsCGGTCAAGAGCCT	GRCh37
NC_000015.8:g.65145647_65145659delinsCGGTCAAGAGCCT	NCBI36
NG_011990.1:g.5399_5411delinsCGGTCAAGAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2311_-110+2323delinsCGGTCAAGAGCCT	ENSP00000453082.2:n.-110+2311_-110+2323delinsCGGTCAAGAGCCT
ENST00000560424.2:c.101_113delinsCGGTCAAGAGCCT	ENSP00000455540.2:p.Ala34=
ENST00000327367.9:c.101_113delinsCGGTCAAGAGCCT MANE Select	ENSP00000332973.4:p.Ala34=
ENST00000327367.8:c.101_113delinsCGGTCAAGAGCCT	ENSP00000332973.4:p.Ala34=
ENST00000559460.5:c.-110+2311_-110+2323delinsCGGTCAAGAGCCT	ENSP00000453082.1:n.-110+2311_-110+2323delinsCGGTCAAGAGCCT
NM_005902.3:c.101_113delinsCGGTCAAGAGCCT	NP_005893.1:p.Ala34=
XM_011521559.1:c.101_113delinsCGGTCAAGAGCCT	XP_011519861.1:p.Ala34=
XM_011521559.3:c.101_113delinsCGGTCAAGAGCCT	XP_011519861.1:p.Ala34=
NM_005902.4:c.101_113delinsCGGTCAAGAGCCT MANE Select	NP_005893.1:p.Ala34=