Canonical Allele Identifier: CA2184369533

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066448_67066462delinsAGAGGGAGAGAGAGG , CM000677.2:g.67066448_67066462delinsAGAGGGAGAGAGAGG	GRCh38
NC_000015.9:g.67358786_67358800delinsAGAGGGAGAGAGAGG , CM000677.1:g.67358786_67358800delinsAGAGGGAGAGAGAGG	GRCh37
NC_000015.8:g.65145840_65145854delinsAGAGGGAGAGAGAGG	NCBI36
NG_011990.1:g.5592_5606delinsAGAGGGAGAGAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2504_-110+2518delinsAGAGGGAGAGAGAGG	ENSP00000453082.2:n.-110+2504_-110+2518delinsAGAGGGAGAGAGAGG
ENST00000560424.2:c.206+88_206+102delinsAGAGGGAGAGAGAGG	ENSP00000455540.2:n.206+88_206+102delinsAGAGGGAGAGAGAGG
ENST00000327367.9:c.206+88_206+102delinsAGAGGGAGAGAGAGG MANE Select	ENSP00000332973.4:n.206+88_206+102delinsAGAGGGAGAGAGAGG
ENST00000327367.8:c.206+88_206+102delinsAGAGGGAGAGAGAGG	ENSP00000332973.4:n.206+88_206+102delinsAGAGGGAGAGAGAGG
ENST00000559460.5:c.-110+2504_-110+2518delinsAGAGGGAGAGAGAGG	ENSP00000453082.1:n.-110+2504_-110+2518delinsAGAGGGAGAGAGAGG
NM_005902.3:c.206+88_206+102delinsAGAGGGAGAGAGAGG	NP_005893.1:n.206+88_206+102delinsAGAGGGAGAGAGAGG
XM_011521559.1:c.206+88_206+102delinsAGAGGGAGAGAGAGG	XP_011519861.1:n.206+88_206+102delinsAGAGGGAGAGAGAGG
XM_011521559.3:c.206+88_206+102delinsAGAGGGAGAGAGAGG	XP_011519861.1:n.206+88_206+102delinsAGAGGGAGAGAGAGG
NM_005902.4:c.206+88_206+102delinsAGAGGGAGAGAGAGG MANE Select	NP_005893.1:n.206+88_206+102delinsAGAGGGAGAGAGAGG