Canonical Allele Identifier: CA2629114688

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67065927-G-GGGGTCACGCCGGCCCAGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065927_67065928insGGGTCACGCCGGCCCAGCCCC , CM000677.2:g.67065927_67065928insGGGTCACGCCGGCCCAGCCCC	GRCh38
NC_000015.9:g.67358265_67358266insGGGTCACGCCGGCCCAGCCCC , CM000677.1:g.67358265_67358266insGGGTCACGCCGGCCCAGCCCC	GRCh37
NC_000015.8:g.65145319_65145320insGGGTCACGCCGGCCCAGCCCC	NCBI36
NG_011990.1:g.5071_5072insGGGTCACGCCGGCCCAGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1983_-110+1984insGGGTCACGCCGGCCCAGCCCC	ENSP00000453082.2:n.-110+1983_-110+1984insGGGTCACGCCGGCCCAGCC...
ENST00000560424.2:c.-228_-227insGGGTCACGCCGGCCCAGCCCC	ENSP00000455540.2:n.-228_-227insGGGTCACGCCGGCCCAGCCCC
ENST00000327367.9:c.-228_-227insGGGTCACGCCGGCCCAGCCCC MANE Select	ENSP00000332973.4:n.-228_-227insGGGTCACGCCGGCCCAGCCCC
ENST00000327367.8:c.-228_-227insGGGTCACGCCGGCCCAGCCCC	ENSP00000332973.4:n.-228_-227insGGGTCACGCCGGCCCAGCCCC
ENST00000559460.5:c.-110+1983_-110+1984insGGGTCACGCCGGCCCAGCCCC	ENSP00000453082.1:n.-110+1983_-110+1984insGGGTCACGCCGGCCCAGCC...
NM_005902.3:c.-228_-227insGGGTCACGCCGGCCCAGCCCC	NP_005893.1:n.-228_-227insGGGTCACGCCGGCCCAGCCCC
XM_011521559.1:c.-228_-227insGGGTCACGCCGGCCCAGCCCC	XP_011519861.1:n.-228_-227insGGGTCACGCCGGCCCAGCCCC
NM_005902.4:c.-228_-227insGGGTCACGCCGGCCCAGCCCC MANE Select	NP_005893.1:n.-228_-227insGGGTCACGCCGGCCCAGCCCC