Canonical Allele Identifier: CA2629114687

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67065926-C-CTCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065926_67065927insTCCCCA , CM000677.2:g.67065926_67065927insTCCCCA	GRCh38
NC_000015.9:g.67358264_67358265insTCCCCA , CM000677.1:g.67358264_67358265insTCCCCA	GRCh37
NC_000015.8:g.65145318_65145319insTCCCCA	NCBI36
NG_011990.1:g.5070_5071insTCCCCA

Transcript Alleles

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