Canonical Allele Identifier: CA2629114685

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67065925-C-CCCGGGGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065926_67065927insCGGGGTCAC , CM000677.2:g.67065926_67065927insCGGGGTCAC	GRCh38
NC_000015.9:g.67358264_67358265insCGGGGTCAC , CM000677.1:g.67358264_67358265insCGGGGTCAC	GRCh37
NC_000015.8:g.65145318_65145319insCGGGGTCAC	NCBI36
NG_011990.1:g.5070_5071insCGGGGTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1982_-110+1983insCGGGGTCAC	ENSP00000453082.2:n.-110+1982_-110+1983insCGGGGTCAC
ENST00000560424.2:c.-229_-228insCGGGGTCAC	ENSP00000455540.2:n.-229_-228insCGGGGTCAC
ENST00000327367.9:c.-229_-228insCGGGGTCAC MANE Select	ENSP00000332973.4:n.-229_-228insCGGGGTCAC
ENST00000327367.8:c.-229_-228insCGGGGTCAC	ENSP00000332973.4:n.-229_-228insCGGGGTCAC
ENST00000559460.5:c.-110+1982_-110+1983insCGGGGTCAC	ENSP00000453082.1:n.-110+1982_-110+1983insCGGGGTCAC
NM_005902.3:c.-229_-228insCGGGGTCAC	NP_005893.1:n.-229_-228insCGGGGTCAC
XM_011521559.1:c.-229_-228insCGGGGTCAC	XP_011519861.1:n.-229_-228insCGGGGTCAC
NM_005902.4:c.-229_-228insCGGGGTCAC MANE Select	NP_005893.1:n.-229_-228insCGGGGTCAC