Canonical Allele Identifier: CA2184368647

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065995_67066005delinsCCGCGGCCCGG , CM000677.2:g.67065995_67066005delinsCCGCGGCCCGG	GRCh38
NC_000015.9:g.67358333_67358343delinsCCGCGGCCCGG , CM000677.1:g.67358333_67358343delinsCCGCGGCCCGG	GRCh37
NC_000015.8:g.65145387_65145397delinsCCGCGGCCCGG	NCBI36
NG_011990.1:g.5139_5149delinsCCGCGGCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2051_-110+2061delinsCCGCGGCCCGG	ENSP00000453082.2:n.-110+2051_-110+2061delinsCCGCGGCCCGG
ENST00000560424.2:c.-160_-150delinsCCGCGGCCCGG	ENSP00000455540.2:n.-160_-150delinsCCGCGGCCCGG
ENST00000327367.9:c.-160_-150delinsCCGCGGCCCGG MANE Select	ENSP00000332973.4:n.-160_-150delinsCCGCGGCCCGG
ENST00000327367.8:c.-160_-150delinsCCGCGGCCCGG	ENSP00000332973.4:n.-160_-150delinsCCGCGGCCCGG
ENST00000559460.5:c.-110+2051_-110+2061delinsCCGCGGCCCGG	ENSP00000453082.1:n.-110+2051_-110+2061delinsCCGCGGCCCGG
NM_005902.3:c.-160_-150delinsCCGCGGCCCGG	NP_005893.1:n.-160_-150delinsCCGCGGCCCGG
XM_011521559.1:c.-160_-150delinsCCGCGGCCCGG	XP_011519861.1:n.-160_-150delinsCCGCGGCCCGG
NM_005902.4:c.-160_-150delinsCCGCGGCCCGG MANE Select	NP_005893.1:n.-160_-150delinsCCGCGGCCCGG