Canonical Allele Identifier: CA2184369531

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066448_67066452delinsAGAGG , CM000677.2:g.67066448_67066452delinsAGAGG	GRCh38
NC_000015.9:g.67358786_67358790delinsAGAGG , CM000677.1:g.67358786_67358790delinsAGAGG	GRCh37
NC_000015.8:g.65145840_65145844delinsAGAGG	NCBI36
NG_011990.1:g.5592_5596delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2504_-110+2508delinsAGAGG	ENSP00000453082.2:n.-110+2504_-110+2508delinsAGAGG
ENST00000560424.2:c.206+88_206+92delinsAGAGG	ENSP00000455540.2:n.206+88_206+92delinsAGAGG
ENST00000327367.9:c.206+88_206+92delinsAGAGG MANE Select	ENSP00000332973.4:n.206+88_206+92delinsAGAGG
ENST00000327367.8:c.206+88_206+92delinsAGAGG	ENSP00000332973.4:n.206+88_206+92delinsAGAGG
ENST00000559460.5:c.-110+2504_-110+2508delinsAGAGG	ENSP00000453082.1:n.-110+2504_-110+2508delinsAGAGG
NM_005902.3:c.206+88_206+92delinsAGAGG	NP_005893.1:n.206+88_206+92delinsAGAGG
XM_011521559.1:c.206+88_206+92delinsAGAGG	XP_011519861.1:n.206+88_206+92delinsAGAGG
XM_011521559.3:c.206+88_206+92delinsAGAGG	XP_011519861.1:n.206+88_206+92delinsAGAGG
NM_005902.4:c.206+88_206+92delinsAGAGG MANE Select	NP_005893.1:n.206+88_206+92delinsAGAGG